Allele Registry

Canonical Allele Identifier: PA1139719263

Gene: PKP2 HGNC NCBI

ClinVar RCV:

RCV001177814

RCV002483966

RCV004006414

ClinVar Variation:

919574

HGVS (amino-acid)	Matching Registered Transcripts
NP_004563.2:p.Ser249Ile	CA384362807 NM_004572.4:c.746G>T