Allele Registry

Canonical Allele Identifier: PA318291

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189284

RCV002517015

ClinVar Variation:

207126

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Met1646Leu	CA318290 NM_014191.4:c.4936A>T CA384880586 NM_014191.4:c.4936A>C