Canonical Allele Identifier: PA285212
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68650
ClinVar RCV Id: RCV000059530 RCV000465483 RCV000501085
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Tyr1683Cys
CA285210
NM_006920.6:c.5048A>G