Allele Registry

Canonical Allele Identifier: PA2828361117

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000498624

RCV001865573

ClinVar Variation:

432948

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Val1274Leu	CA384904256 NM_001369788.1:c.3820G>T CA384904263 NM_001369788.1:c.3820G>C