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 Record Report, based on RCV accession.

Prefix

clinvar.record

Links

Homepage

Pattern for Local Unique Identifiers

Local identifiers in ClinVar Record should match this regular expression:
^RCV\d+(\.\d+)?$

Example Local Unique Identifier

RCV000033555.3   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from ClinVar Record should match this regular expression:
^clinvar\.record:RCV\d+(\.\d+)?$

Example CURIE

clinvar.record:RCV000033555.3

Contact

Missing Contact

Identifier Space Owner

National Center for Biotechnology Information

A summary of the relations in the Bioregistry schema can be found here.

In Collection (1)

Synapse.org external links

Mappings from records in Bioregistry to external registries comprises the metaregistry. This resource has 3 mappings to external registries with 1 unique external prefixes.

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier RCV000033555.3 is used to demonstrate the providers available for ClinVar Record. Some providers may use a different example, which is displayed in the table below. A guide for curating additional providers can be found here.