Allele Registry

Canonical Allele Identifier: PA2827291597

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189266

RCV002517014

RCV003223395

ClinVar Variation:

207109

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Ser845Phe	CA318256 NM_001330260.2:c.2534C>T