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: PA2825009103

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1760982

ClinVar RCV Id: RCV002412295 RCV003099770

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Ser263Arg	CA387760242 NM_000059.4:c.787A>C CA387760249 NM_000059.4:c.789T>A CA387760253 NM_000059.4:c.789T>G