Allele Registry

Canonical Allele Identifier: PA2829531388

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000423974

RCV000678186

ClinVar Variation:

369805

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Arg525Leu	CA10654783 NM_004518.5:c.1574G>T