Canonical Allele Identifier: PA2827786499
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1524711
ClinVar RCV Id: RCV002049641
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Ser1587Phe
CA349071250
NM_001353958.2:c.4760C>T