Allele Registry

Canonical Allele Identifier: PA2827290789

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000178933

RCV001078929

ClinVar Variation:

197801

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Thr164Met	CA246132 NM_001330260.2:c.491C>T