Canonical Allele Identifier: PA2827770939
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1064343
ClinVar RCV Id: RCV001374298
ClinVar Variation Id: 2498837
ClinVar RCV Id: RCV003223046
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Phe1209Leu
CA349055932
NM_001353951.2:c.3627T>G
CA349055935
NM_001353951.2:c.3627T>A
CA349055945
NM_001353951.2:c.3625T>C