Allele Registry

Canonical Allele Identifier: PA123946

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000015511

RCV000057910

RCV000182022

RCV000703745

RCV000709729

RCV002390110

ClinVar Variation:

14430

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Ala490Thr	CA004650 NM_172056.2:c.1468G>A