Allele Registry

Canonical Allele Identifier: PA092153

Gene: KCNH2 HGNC NCBI

ClinVar Allele:

29483

ClinVar RCV:

RCV000015528

RCV000057935

ClinVar Variation:

14444

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Ala558Pro	CA004968 NM_000238.4:c.1672G>C