Allele Registry

Canonical Allele Identifier: PA2828361488

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000023031

RCV001230237

RCV003992161

ClinVar Variation:

30123

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Asn1727Asp	CA128948 NM_001369788.1:c.5179A>G