Canonical Allele Identifier: PA285089
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68600
ClinVar RCV Id: RCV000059477 RCV001548630
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.His928Tyr
CA285087
NM_006920.6:c.2782C>T