Allele Registry

Canonical Allele Identifier: PA305633

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000046142

RCV000057775

RCV000182123

RCV000619785

RCV003319313

RCV003591649

RCV004528256

ClinVar Variation:

53116

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Ser150Leu	CA008437 NM_181798.1:c.449C>T