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 submissions, and is based on SCV accession.
Local identifiers in ClinVar Submission should match this
Compact URIs (CURIEs) constructed from ClinVar Submission should match
this regular expression:
The metaregistry provides mappings between the Bioregistry and other registries. There are 3 mappings to external registries for this resource with 1 unique external prefixes.
Providers are various services that resolve CURIEs to URLs. The example CURIE
is used to demonstrate the provides available for
this resource. Generation of OLS and BioPortal URLs requires additional programmatic
logic beyond string formatting.