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: PA2573056828

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 483095

ClinVar RCV Id: RCV000562386 RCV001320153 RCV003459347 RCV001560120 RCV004001016

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Glu238Gln	CA6940437 NM_000059.4:c.712G>C