Allele Registry

Canonical Allele Identifier: PA2827292546

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189285

ClinVar Variation:

207127

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Ala1650Val	CA318292 NM_001330260.2:c.4949C>T