Allele Registry

Canonical Allele Identifier: PA318302

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189290

RCV002517898

RCV003992222

ClinVar Variation:

207132

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Arg1872Leu	CA318301 NM_014191.4:c.5615G>T