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: PA2825260420

Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 920494

ClinVar RCV Id: RCV001179252 RCV001372105 RCV004006548

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005242.2:p.Trp632Cys	CA384361906 NM_001005242.3:c.1896G>C CA384361911 NM_001005242.3:c.1896G>T