Allele Registry

Canonical Allele Identifier: PA2825099309

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV001063766

RCV003592246

ClinVar Variation:

857986

2773419

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Trp1001Cys	CA369852940 NM_000238.4:c.3003G>T CA369852941 NM_000238.4:c.3003G>C