reg.clinicalgenome.org

Allele Registry

Search ClinGen Allele Registry. NM 002496.3:c.64C T. ENST00000413465.6:c.637C T. NC 000017.10:g.7578212G A. Reference sequence and position. What is the Allele Registry? To facilitate wide integration of the registry services with existing software and workflows for variant evaluation, e.g. Pathogenicity Calculator. All the functionalities of the registry are exposed via REST APIs. The API allows also for bulk query and registration of variants. Hundreds of variants saved as a VCF file or a list ...

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Allele Registry | reg.clinicalgenome.org Reviews

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Search ClinGen Allele Registry. NM 002496.3:c.64C T. ENST00000413465.6:c.637C T. NC 000017.10:g.7578212G A. Reference sequence and position. What is the Allele Registry? To facilitate wide integration of the registry services with existing software and workflows for variant evaluation, e.g. Pathogenicity Calculator. All the functionalities of the registry are exposed via REST APIs. The API allows also for bulk query and registration of variants. Hundreds of variants saved as a VCF file or a list ...

<META> KEYWORDS

1 allele registry

2 clinical genome resource

3 for example

4 hgvs

5 caid

6 clinvar variation

7 clinvar rcv

8 dbsnp

9 gene

10 api specification

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Allele Registry | reg.clinicalgenome.org Reviews

https://reg.clinicalgenome.org

Search ClinGen Allele Registry. NM 002496.3:c.64C T. ENST00000413465.6:c.637C T. NC 000017.10:g.7578212G A. Reference sequence and position. What is the Allele Registry? To facilitate wide integration of the registry services with existing software and workflows for variant evaluation, e.g. Pathogenicity Calculator. All the functionalities of the registry are exposed via REST APIs. The API allows also for bulk query and registration of variants. Hundreds of variants saved as a VCF file or a list ...

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AlleleRegistry 0.09.xx api v3.pdf. 19-Nov-2016 07:00 228202 request with payload.py. 19-Nov-2016 07:00 1792 request with payload.rb. 19-Nov-2016 07:00 1887 request with payload.sh.

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calculator.clinicalgenome.org

Pathogenicity Calculator

http://calculator.clinicalgenome.org/site/cg-faqs

Pathogenicity Calculator: Frequently Asked Questions. Pathogenicity Calculator: Frequently Asked Questions. Pathogenicity Calculator: Frequently Asked Questions. How can I get access to the Pathogenicity Calculator? How can I change my password? To change the password. You will need to provide your existing password. If you forgot your password, visit here. To retrieve your password. Are there tutorials/use cases that may help to introduce to various calculator functionalities? A recurrent user ( here.

calculator.clinicalgenome.org

Pathogenicity Calculator

http://calculator.clinicalgenome.org/java-bin/clingenV2.6.jsp

Article describing ClinGen Pathogenicity Calculator is now available online from Genome Medicine. What is the ClinGen Pathogenicity Calculator? The shift from genetic testing of individual genes to exome and genome sequencing has been accompanied by new challenges in genome interpretation. The American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) have published Standards and Guidelines for the Interpretation of Sequence Variants. Answers to Frequently As...

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reg.clinicalgenome.org

Allele Registry

Search ClinGen Allele Registry. NM 002496.3:c.64C T. ENST00000413465.6:c.637C T. NC 000017.10:g.7578212G A. Reference sequence and position. What is the Allele Registry? To facilitate wide integration of the registry services with existing software and workflows for variant evaluation, e.g. Pathogenicity Calculator. All the functionalities of the registry are exposed via REST APIs. The API allows also for bulk query and registration of variants. Hundreds of variants saved as a VCF file or a list ...

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