Allele Registry

Canonical Allele Identifier: PA305048

Gene: KCNH2 HGNC NCBI

ClinVar Allele:

197192

ClinVar RCV:

RCV000181878

RCV001088454

RCV001842830

RCV002433792

ClinVar Variation:

200475

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Leu549Val	CA007102 NM_172057.3:c.1645T>G