Allele Registry

Canonical Allele Identifier: PA257241

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000015509

RCV000057970

RCV000181815

RCV000537059

RCV002399326

ClinVar Variation:

14428

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Arg582Cys	CA005345 NM_172056.2:c.1744C>T