Allele Registry

Canonical Allele Identifier: PA2830339761

Gene: KCNH2 HGNC NCBI

ClinVar Allele:

442551

ClinVar RCV:

RCV000519050

RCV000631573

RCV001811024

ClinVar Variation:

448974

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Arg345Cys	CA030488 NM_172057.3:c.1033C>T