Allele Registry

Canonical Allele Identifier: PA2827291751

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000417010

RCV003335314

ClinVar Variation:

375522

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Ser978Gly	CA16044327 NM_001330260.2:c.2932A>G