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: PA2573055987

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142470

ClinVar RCV Id: RCV000131604 RCV000697994 RCV000985476 RCV001420793

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Asn781His	CA015005 NM_000059.4:c.2341A>C