Allele Registry

Canonical Allele Identifier: PA2829530401

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000106299

RCV000187868

RCV000578260

RCV000768250

RCV001056302

RCV001089803

RCV002316289

RCV004546432

ClinVar Variation:

120176

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Ala265Val	CA150769 NM_004518.5:c.794C>T