Allele Registry

Canonical Allele Identifier: PA2826130539

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000118285

ClinVar Variation:

130249

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171455.1:p.Val1551Leu	CA155095 NM_001177984.2:c.4651G>C CA384879342 NM_001177984.2:c.4651G>T