Allele Registry

Canonical Allele Identifier: PA240329

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000174766

RCV000509479

RCV001044209

ClinVar Variation:

194402

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Ile763Val	CA240328 NM_014191.4:c.2287A>G