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: PA2573160315

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1423126

ClinVar RCV Id: RCV001954716 RCV002344052

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Ala1799Thr	CA387785289 NM_000059.4:c.5395G>A