Allele Registry

Canonical Allele Identifier: PA123964

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000015524

RCV000058169

RCV001318613

RCV001794448

RCV001841246

RCV002496372

ClinVar Variation:

14441

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Arg948Cys	CA007496 NM_000238.4:c.2842C>T