Allele Registry

Canonical Allele Identifier: PA2829531483

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187922

ClinVar Variation:

205920

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Arg553Leu	CA315492 NM_004518.5:c.1658G>T