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: PA2829698027

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 252886

ClinVar RCV Id: RCV000238611 RCV000615770 RCV002518535 RCV004020983

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Ser1750Leu	CA10586114 NM_007297.4:c.5249C>T