Allele Registry

Canonical Allele Identifier: PA305531

Gene: KCNQ1 HGNC NCBI

ClinVar Allele:

197429

ClinVar RCV:

RCV000182080

RCV001852299

RCV003319329

ClinVar Variation:

200814

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Arg47Leu	CA007345 NM_181798.1:c.140G>T