Allele Registry

Canonical Allele Identifier: PA305358

Gene: KCNH2 HGNC NCBI

ClinVar Allele:

78094

ClinVar RCV:

RCV000057906

RCV000182021

RCV002390207

ClinVar Variation:

67198

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Thr474Ile	CA004610 NM_172056.2:c.1421C>T