Allele Registry

Canonical Allele Identifier: PA328223

Gene: KCNQ1 HGNC NCBI

ClinVar Allele:

77943

ClinVar RCV:

RCV000057615

RCV000249066

RCV000489493

RCV001380059

ClinVar Variation:

67047

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Lys430Glu	CA006153 NM_181798.1:c.1288A>G