Canonical Allele Identifier: PA2827762220
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2053516
ClinVar RCV Id: RCV002922565

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Glu1987Lys
CA349063016
NM_001353949.2:c.5959G>A