Canonical Allele Identifier: PA2580370664
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2099771
ClinVar RCV Id: RCV003021884

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Pro1713His
CA384883710
NM_014191.4:c.5138C>A