Allele Registry

Canonical Allele Identifier: PA2830347137

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187916

RCV000678189

RCV002517873

ClinVar Variation:

205916

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Pro530Leu	CA315474 NM_172108.3:c.1589C>T