Allele Registry

Canonical Allele Identifier: PA2830344612

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000106299

RCV000187868

RCV000578260

RCV000768250

RCV001056302

RCV001089803

RCV002316289

RCV004546432

ClinVar Variation:

120176

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Ala265Val	CA150769 NM_172106.3:c.794C>T