Allele Registry

Canonical Allele Identifier: PA257253

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000015513

RCV000058123

RCV000631649

RCV002426506

RCV003591634

ClinVar Variation:

14432

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Ser478Leu	CA006763 NM_172057.3:c.1433C>T