Allele Registry

Canonical Allele Identifier: PA658803115

Gene: KCNQ1 HGNC NCBI

MaveDb:

Score 1.1791565

ClinVar RCV:

RCV000625723

RCV004010053

ClinVar Variation:

522585

3070021

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Thr312Ser	CA379132966 NM_000218.3:c.934A>T CA379132970 NM_000218.3:c.935C>G