Canonical Allele Identifier: PA2499278044
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1023022
ClinVar RCV Id: RCV001323008

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Asp1810Glu
CA384886109
NM_014191.4:c.5430C>A
CA384886111
NM_014191.4:c.5430C>G