Canonical Allele Identifier: PA2827749530
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68656
ClinVar RCV Id: RCV000059536 RCV001062878
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Ala175Thr
CA285225
NM_001353948.2:c.523G>A