Allele Registry

Canonical Allele Identifier: PA304943

Gene: KCNH2 HGNC NCBI

ClinVar Allele:

197220

ClinVar RCV:

RCV000181849

RCV000694640

ClinVar Variation:

200428

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Ile787Asn	CA006494 NM_000238.4:c.2360T>A