Allele Registry

Canonical Allele Identifier: PA305112

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000058166

RCV000181897

RCV000631729

RCV001841726

RCV002490644

RCV004019009

ClinVar Variation:

67440

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Ser597Asn	CA007468 NM_172057.3:c.1790G>A