Allele Registry

Canonical Allele Identifier: PA2829676470

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413245

RCV001865292

ClinVar Variation:

373148

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Val1750Ala	CA16042356 NM_006920.6:c.5249T>C