Canonical Allele Identifier: PA2826129775
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 379563
ClinVar RCV Id: RCV000555077 RCV001262687 RCV000994920
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Glu593Asp
CA6571329
NM_001177984.2:c.1779G>C
CA385229575
NM_001177984.2:c.1779G>T