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: PA2829689123

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1039566

ClinVar RCV Id: RCV001343063 RCV003158778

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Gln444His	CA10599103 NM_007297.4:c.1332G>T CA10599104 NM_007297.4:c.1332G>C