Allele Registry

Canonical Allele Identifier: PA2825259550

Gene: PKP2 HGNC NCBI

ClinVar RCV:

RCV000489016

RCV000640012

RCV001798860

RCV002395190

RCV003226308

ClinVar Variation:

427088

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005242.2:p.Ser249Asn	CA384362812 NM_001005242.3:c.746G>A