Canonical Allele Identifier: PA2827782361
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68519
ClinVar RCV Id: RCV000059391

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Glu818Lys
CA284898
NM_001353957.2:c.2452G>A