Canonical Allele Identifier: PA2827760829
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_001340878.1:p.Asp1597Tyr
CA284982
NM_001353949.2:c.4789G>T