Canonical Allele Identifier: PA916036886
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68554
ClinVar RCV Id: RCV000059428 RCV000584823 RCV000636349
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Asp794Tyr
CA284982
NM_001353961.2:c.2380G>T