Canonical Allele Identifier: PA2580370615
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1982920
ClinVar RCV Id: RCV002785662

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Asp1080Glu
CA384893154
NM_014191.4:c.3240T>A
CA384893156
NM_014191.4:c.3240T>G