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: PA1139759778

Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 927668

ClinVar RCV Id: RCV001191066 RCV003584842

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_478104.2:p.Gly54Arg	CA5012304 NM_058197.5:c.160G>C CA913188282 NM_058197.5:c.160G>A