Allele Registry

Canonical Allele Identifier: PA2826275085

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000057984

RCV000557658

ClinVar Variation:

67269

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191727.1:p.Ile253Lys	CA005445 NM_001204798.2:c.758T>A