Canonical Allele Identifier: PA2580370602
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1721803
ClinVar RCV Id: RCV002302191

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Met994Ile
CA384892036
NM_014191.4:c.2982G>A
CA384892037
NM_014191.4:c.2982G>C
CA384892038
NM_014191.4:c.2982G>T