Allele Registry

Canonical Allele Identifier: PA2827768000

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413245

RCV001865292

ClinVar Variation:

373148

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Val1750Ala	CA16042356 NM_001353950.2:c.5249T>C