Allele Registry

Canonical Allele Identifier: PA916036487

Gene: SCN1A HGNC NCBI

ClinVar Allele:

201537

ClinVar RCV:

RCV000188905

RCV001317116

ClinVar Variation:

206794

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Ala989Val	CA317339 NM_001353948.2:c.2966C>T