Allele Registry

Canonical Allele Identifier: PA252599

Gene: KCNQ1 HGNC NCBI

MaveDb:

Score -0.030013571

ClinVar Allele:

18180

ClinVar RCV:

RCV000003290

RCV000057662

RCV001349040

ClinVar Variation:

3141

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Pro117Leu	CA006854 NM_000218.3:c.350C>T