Allele Registry

Canonical Allele Identifier: PA2827292129

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189275

RCV000700845

ClinVar Variation:

207117

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Ala1319Ser	CA318272 NM_001330260.2:c.3955G>T