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: PA2573059119

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1319575

ClinVar RCV Id: RCV003237571 RCV003158933

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Ser1817Pro	CA387785586 NM_000059.4:c.5449T>C