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: PA915996456

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 805950

ClinVar RCV Id: RCV000993798 RCV003158284

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Leu474Ser	CA10599205 NM_007300.4:c.1421T>C