Canonical Allele Identifier: PA2827790402
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 449377
ClinVar RCV Id: RCV000522963 RCV001315158
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Asp192Glu
CA1943019
NM_001353961.2:c.576T>G
CA349060373
NM_001353961.2:c.576T>A