Allele Registry

Canonical Allele Identifier: PA645422632

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000423974

RCV000678186

ClinVar Variation:

369805

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Arg553Leu	CA10654783 NM_172107.3:c.1658G>T