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: PA2573254512

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1479230

ClinVar RCV Id: RCV001990895 RCV003156964

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Arg365Thr	CA10599871 NM_007300.4:c.1094G>C