Canonical Allele Identifier: PA2827292750
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1056257
ClinVar RCV Id: RCV001365057
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Asp1846Glu
CA384887312
NM_001330260.2:c.5538C>G
CA384887325
NM_001330260.2:c.5538C>A