Allele Registry

Canonical Allele Identifier: PA2830344675

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187881

RCV001377992

ClinVar Variation:

205884

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Asp282Asn	CA315404 NM_172106.3:c.844G>A