Canonical Allele Identifier: PA2827292751
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_001317189.1:p.Phe1849Leu
CA384887389
NM_001330260.2:c.5545T>C
CA384887400
NM_001330260.2:c.5547T>A
CA384887401
NM_001330260.2:c.5547T>G