Allele Registry

Canonical Allele Identifier: PA305218

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000058075

RCV000181933

RCV004019004

ClinVar Variation:

67355

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Phe68Leu	CA006163 NM_000238.4:c.202T>C CA369865620 NM_000238.4:c.204C>G CA369865622 NM_000238.4:c.204C>A