Canonical Allele Identifier: PA2573256241
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1518768
ClinVar RCV Id: RCV002024111

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Phe1795Leu
CA384885728
NM_014191.4:c.5383T>C
CA384885746
NM_014191.4:c.5385C>A
CA384885756
NM_014191.4:c.5385C>G