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: PA2573058177

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51839

ClinVar RCV Id: RCV000113419 RCV000780017 RCV001314138

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Lys1767_Asp1769del	CA021981 NM_000059.4:c.5299_5307del