Allele Registry

Canonical Allele Identifier: PA2828361249

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189281

RCV002281571

RCV003992220

ClinVar Variation:

207123

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Ala1450Val	CA318284 NM_001369788.1:c.4349C>T