Allele Registry

Canonical Allele Identifier: PA2830344254

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187846

RCV001206346

ClinVar Variation:

205858

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Ala64Ser	CA315339 NM_172106.3:c.190G>T