Allele Registry

Canonical Allele Identifier: PA257218

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000015501

RCV000057941

RCV000181806

RCV000229360

RCV000620827

RCV000626630

RCV003492296

ClinVar Variation:

14420

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Ala561Val	CA005035 NM_172056.2:c.1682C>T