Canonical Allele Identifier: PA2826130747
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1056257
ClinVar RCV Id: RCV001365057
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Asp1805Glu
CA384887312
NM_001177984.2:c.5415C>G
CA384887325
NM_001177984.2:c.5415C>A