Allele Registry

Canonical Allele Identifier: PA658667848

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000519050

RCV000631573

RCV001811024

ClinVar Variation:

448974

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Arg685Cys	CA030488 NM_172056.2:c.2053C>T