Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2829695843

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 868862

ClinVar RCV Id: RCV001077848 RCV002348539

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Val1599Asp	CA10591651 NM_007297.4:c.4796T>A