Allele Registry

Canonical Allele Identifier: PA2829530558

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000179560

RCV000578224

RCV000678143

RCV001063168

RCV001860006

RCV003315310

RCV003985079

ClinVar Variation:

198284

488538

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Gly281Arg	CA303047 NM_004518.5:c.841G>A CA409652696 NM_004518.5:c.841G>C