Allele Registry

Canonical Allele Identifier: PA2827291510

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000174766

RCV000509479

RCV001044209

ClinVar Variation:

194402

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Ile763Val	CA240328 NM_001330260.2:c.2287A>G