Allele Registry

Canonical Allele Identifier: PA2826275076

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000015517

RCV000015518

RCV000057980

RCV000057981

ClinVar Variation:

14436

14437

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191727.1:p.Asn248Lys	CA005420 NM_001204798.2:c.744C>A CA005426 NM_001204798.2:c.744C>G