Allele Registry

Canonical Allele Identifier: PA2827292296

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189279

ClinVar Variation:

207121

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Phe1480Leu	CA318280 NM_001330260.2:c.4438T>C CA384909043 NM_001330260.2:c.4440C>A CA384909044 NM_001330260.2:c.4440C>G