Allele Registry

Canonical Allele Identifier: PA2830344443

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678083

RCV001030036

RCV001066784

RCV001092637

RCV003315300

RCV004528127

ClinVar Variation:

21792

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Ala196Val	CA342514 NM_172106.3:c.587C>T