Allele Registry

Canonical Allele Identifier: PA2829531430

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187916

RCV000678189

RCV002517873

ClinVar Variation:

205916

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Pro533Leu	CA315474 NM_004518.5:c.1598C>T