Canonical Allele Identifier: PA2828361530
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1285472
ClinVar RCV Id: RCV001706828

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Asp1792Glu
CA384886933
NM_001369788.1:c.5376T>G
CA384886937
NM_001369788.1:c.5376T>A