Allele Registry

Canonical Allele Identifier: PA305362

Gene: KCNH2 HGNC NCBI

ClinVar RCV:

RCV000182023

RCV000473348

ClinVar Variation:

200728

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Arg194Ser	CA004896 NM_172057.3:c.580C>A