Allele Registry

Canonical Allele Identifier: PA2830347121

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000423974

RCV000678186

ClinVar Variation:

369805

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Arg522Leu	CA10654783 NM_172108.3:c.1565G>T