Canonical Allele Identifier: PA2826130785
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1679326
ClinVar RCV Id: RCV002226923
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Val1833Leu
CA384888120
NM_001177984.2:c.5497G>C
CA384888123
NM_001177984.2:c.5497G>T