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: PA2573058274

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91452

ClinVar RCV Id: RCV000076969 RCV000160235 RCV000131800 RCV000234409 RCV001109883 RCV003477474

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Leu2180Phe	CA024153 NM_000059.4:c.6540G>C CA387789721 NM_000059.4:c.6540G>T