Canonical Allele Identifier: PA2827779900
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_001340884.1:p.Phe1208Leu
CA349055932
NM_001353955.2:c.3624T>G
CA349055935
NM_001353955.2:c.3624T>A
CA349055945
NM_001353955.2:c.3622T>C