Canonical Allele Identifier: PA2573205800
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1523055
ClinVar RCV Id: RCV002048821

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Asp990Asn
CA349067735
NM_001353961.2:c.2968G>A