Allele Registry

Canonical Allele Identifier: PA155096

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000118285

RCV004784512

RCV004796888

ClinVar Variation:

130249

3375774

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Val1592Leu	CA155095 NM_014191.4:c.4774G>C CA384879342 NM_014191.4:c.4774G>T