Canonical Allele Identifier: PA2827783540
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1524711
ClinVar RCV Id: RCV002049641

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Ser1587Phe
CA349071250
NM_001353957.2:c.4760C>T