Canonical Allele Identifier: PA2499278052
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1213776
ClinVar RCV Id: RCV001591725 RCV003771779
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Glu1871Asp
CA384888049
NM_014191.4:c.5613G>C
CA384888052
NM_014191.4:c.5613G>T