Allele Registry

Canonical Allele Identifier: PA1139746073

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV001258195

RCV002451627

RCV003647835

ClinVar Variation:

979128

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Ala778Thr	CA031693 NM_172056.2:c.2332G>A