Allele Registry

Canonical Allele Identifier: PA2830347075

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000585831

RCV001306124

RCV002404589

ClinVar Variation:

495266

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Glu499Lys	CA317429754 NM_172108.3:c.1495G>A