Allele Registry

Canonical Allele Identifier: PA318285

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189281

RCV002281571

RCV003992220

ClinVar Variation:

207123

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Ala1491Val	CA318284 NM_014191.4:c.4472C>T