Allele Registry

Canonical Allele Identifier: PA2829530067

Gene: KCNQ2 HGNC NCBI

ClinVar Allele:

205322

208706

ClinVar RCV:

RCV000190782

RCV000192641

RCV001857675

RCV002317690

ClinVar Variation:

208761

211234

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Glu231Asp	CA204842 NM_004518.5:c.693G>C CA205596 NM_004518.5:c.693G>T