ClinVar archives reports of relationships among medically important variants and phenotypes. It records human variation, interpretations of the relationship specific variations to human health, and supporting evidence for each interpretation. Each ClinVar record (RCV identifier) represents an aggregated view of interpretations of the same variation and condition from one or more submitters. Submissions for individual variation/phenotype combinations (SCV identifier) are also collected and made available separately. This collection references the Variant identifier.

Prefix

clinvar

Alternative Prefixes

clinvar.variation clinvar.variant

Keywords

biomedical science clinical studies genomics preclinical studies

Links

Homepage

Contact

Missing Contact

Pattern for Local Unique Identifiers

Local identifiers in ClinVar Variation should match this regular expression:
^\d+$

Example Local Unique Identifier

12345   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from ClinVar Variation should match this regular expression:
^clinvar:\d+$

Example CURIE

clinvar:12345

Publications

2013 ClinVar: public archive of relationships among sequence variation and human phenotype

Has Parts (bfo:0000051 )

clinvar.record

In Collection

FHIR External Terminologies

The metaregistry provides mappings between the Bioregistry and other registries. There are 9 mappings to external registries for this resource with 6 unique external prefixes.

Providers are various services that resolve CURIEs to URLs. The example CURIE None:12345 is used to demonstrate the provides available for this resource. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.