Canonical Allele Identifier: PA2826130778
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 253296
ClinVar RCV Id: RCV000239760
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Glu1829Asp
CA10586301
NM_001177984.2:c.5487A>T
CA384888017
NM_001177984.2:c.5487A>C