Allele Registry

Canonical Allele Identifier: PA111671

Gene: KCNQ1 HGNC NCBI

MaveDb:

Score -0.016156333

ClinVar RCV:

RCV000057816

RCV000182138

RCV000619103

RCV000678812

RCV000709732

ClinVar Variation:

53140

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Tyr315Cys	CA008807 NM_000218.3:c.944A>G