Canonical Allele Identifier: PA2827771766
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68650

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Tyr1683Cys
CA285210
NM_001353951.2:c.5048A>G