Canonical Allele Identifier: PA2827761518
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68568

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Ser1762Phe
CA285015
NM_001353949.2:c.5285C>T