Canonical Allele Identifier: PA2499277943
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1044885
ClinVar RCV Id: RCV001349205
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Val283Met
CA385226653
NM_014191.4:c.847G>A