Allele Registry

Canonical Allele Identifier: PA2825260785

Gene: PKP2 HGNC NCBI

ClinVar RCV:

RCV000156851

RCV002515037

ClinVar Variation:

180048

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005242.2:p.Glu808Lys	CA012177 NM_001005242.3:c.2422G>A