Canonical Allele Identifier: PA2827292599
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2099771
ClinVar RCV Id: RCV003021884

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Pro1713His
CA384883710
NM_001330260.2:c.5138C>A