Canonical Allele Identifier: PA2826130177
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1982920
ClinVar RCV Id: RCV002785662
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Asp1080Glu
CA384893154
NM_001177984.2:c.3240T>A
CA384893156
NM_001177984.2:c.3240T>G