Allele Registry

Canonical Allele Identifier: PA2828361397

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189284

RCV002517015

ClinVar Variation:

207126

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Met1605Leu	CA318290 NM_001369788.1:c.4813A>T CA384880586 NM_001369788.1:c.4813A>C