Allele Registry

Canonical Allele Identifier: PA218692

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000058180

RCV000421078

RCV001080871

RCV001841733

RCV002433558

ClinVar Variation:

67453

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Glu638Lys	CA007646 NM_172057.3:c.1912G>A