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: PA1139678598

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38032

ClinVar RCV Id: RCV000031613 RCV000044889 RCV000131379 RCV000423925 RCV000588166

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_000050.3:p.Thr2097Met