Canonical Allele Identifier: PA2826130748
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1318732
ClinVar RCV Id: RCV001768356
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Phe1808Leu
CA384887389
NM_001177984.2:c.5422T>C
CA384887400
NM_001177984.2:c.5424T>A
CA384887401
NM_001177984.2:c.5424T>G