Allele Registry

Canonical Allele Identifier: PA2830344492

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678134

RCV001294297

ClinVar Variation:

369757

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Thr217Ala	CA10654822 NM_172106.3:c.649A>G