Allele Registry

Canonical Allele Identifier: PA305013

Gene: KCNH2 HGNC NCBI

ClinVar Allele:

78299

ClinVar RCV:

RCV000058127

RCV000181868

ClinVar Variation:

67403

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Thr486Ile	CA006823 NM_172057.3:c.1457C>T