Allele Registry

Canonical Allele Identifier: PA305374

Gene: KCNH2 HGNC NCBI

ClinVar Allele:

78122

ClinVar RCV:

RCV000057936

RCV001703966

RCV001854196

ClinVar Variation:

67226

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Ala218Glu	CA004976 NM_172057.3:c.653C>A