Allele Registry

Canonical Allele Identifier: PA2827769500

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188840

RCV003448282

ClinVar Variation:

206745

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Leu221Pro	CA317148 NM_001353951.2:c.662T>C