Allele Registry

Canonical Allele Identifier: PA1139746497

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV001063766

RCV003592246

ClinVar Variation:

857986

2773419

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Trp661Cys	CA369852940 NM_172057.3:c.1983G>T CA369852941 NM_172057.3:c.1983G>C