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: PA2825021915

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1753451

ClinVar RCV Id: RCV002361694

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Ser2142Tyr	CA387789282 NM_000059.4:c.6425C>A