Allele Registry

Canonical Allele Identifier: PA2825098764

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000522527

RCV000528889

RCV001841407

RCV002225643

ClinVar Variation:

448973

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Ala448Ser	CA027793 NM_000238.4:c.1342G>T