Allele Registry

Canonical Allele Identifier: PA2827292449

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000118285

ClinVar Variation:

130249

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Val1592Leu	CA155095 NM_001330260.2:c.4774G>C CA384879342 NM_001330260.2:c.4774G>T