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: PA167073

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37398

ClinVar RCV Id: RCV000030979 RCV000130767 RCV000539447 RCV001293586 RCV002472941

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Gly401Glu	CA000791 NM_007294.4:c.1202G>A