Allele Registry

Canonical Allele Identifier: PA2830345020

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000585831

RCV001306124

RCV002404589

ClinVar Variation:

495266

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Glu512Lys	CA317429754 NM_172106.3:c.1534G>A