Canonical Allele Identifier: PA2826130717
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1320497
ClinVar RCV Id: RCV001776476
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Glu1763Asp
CA236327630
NM_001177984.2:c.5289G>C
CA384885973
NM_001177984.2:c.5289G>T