Allele Registry

Canonical Allele Identifier: PA257266

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000015528

RCV000057935

ClinVar Variation:

14444

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Ala558Pro	CA004968 NM_172056.2:c.1672G>C