Allele Registry

Canonical Allele Identifier: PA304921

Gene: KCNH2 HGNC NCBI

ClinVar Allele:

78274

ClinVar RCV:

RCV000058098

RCV000181844

RCV000454509

ClinVar Variation:

67378

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Gly749Val	CA006377 NM_172056.2:c.2246G>T