Allele Registry

Canonical Allele Identifier: PA2830346794

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV001091372

ClinVar Variation:

871424

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Pro285Leu	CA409652651 NM_172108.3:c.854C>T