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: PA2829682622

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1421304

ClinVar RCV Id: RCV001916853 RCV003156857

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Asp1343Gly	CA10593902 NM_007294.4:c.4028A>G