Canonical Allele Identifier: PA2827781567
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189915
ClinVar RCV Id: RCV000180867
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Ser243Tyr
CA303295
NM_001353957.2:c.728C>A