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: PA915992825

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 230250

ClinVar RCV Id: RCV000216025

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009230.2:p.Thr296Ser	CA10580530 NM_007299.4:c.887C>G CA10593329 NM_007299.4:c.886A>T