Allele Registry

Canonical Allele Identifier: PA123956

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000015517

RCV000015518

RCV000057980

RCV000057981

ClinVar Variation:

14436

14437

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Asn248Lys	CA005420 NM_172057.3:c.744C>A CA005426 NM_172057.3:c.744C>G