Allele Registry

Canonical Allele Identifier: PA305272

Gene: KCNH2 HGNC NCBI

ClinVar Allele:

78356

ClinVar RCV:

RCV000058188

RCV000181949

RCV001301364

RCV004019011

ClinVar Variation:

67460

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Arg100Gln	CA007764 NM_172056.2:c.299G>A