Allele Registry

Canonical Allele Identifier: PA305496

Gene: KCNH2 HGNC NCBI

ClinVar Allele:

78272

ClinVar RCV:

RCV000058096

RCV000182051

RCV001060143

ClinVar Variation:

67376

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Thr74Arg	CA006358 NM_172056.2:c.221C>G