Canonical Allele Identifier: PA2827781838
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68506
ClinVar RCV Id: RCV000059378 RCV000188863 RCV000636386 RCV001198232
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Arg393His
CA284871
NM_001353957.2:c.1178G>A