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: PA2829678137

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 948211

ClinVar RCV Id: RCV001219425 RCV003158526

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Arg365Lys	CA10599872 NM_007294.4:c.1094G>A