Allele Registry

Canonical Allele Identifier: PA2827292122

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000498624

RCV001865573

ClinVar Variation:

432948

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Val1315Leu	CA384904256 NM_001330260.2:c.3943G>T CA384904263 NM_001330260.2:c.3943G>C