Canonical Allele Identifier: PA2741874062
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2706939
ClinVar RCV Id: RCV003589869
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Thr230Ile
CA385224857
NM_001369788.1:c.689C>T