Canonical Allele Identifier: PA2827750432
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68504

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Arg393Ser
CA284865
NM_001353948.2:c.1177C>A