Allele Registry

Canonical Allele Identifier: PA111218

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000046184

RCV000057832

RCV000182150

RCV000817822

RCV001248782

RCV002371889

ClinVar Variation:

53152

660595

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Gly325Arg	CA008972 NM_000218.3:c.973G>A CA379133027 NM_000218.3:c.973G>C