Canonical Allele Identifier: PA2499275260
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1007217
ClinVar RCV Id: RCV001304362

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Asn996Asp
CA349060369
NM_006920.6:c.2986A>G