Canonical Allele Identifier: PA2827762867
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68668
ClinVar RCV Id: RCV000059548 RCV001854248
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Trp190Arg
CA285246
NM_001353950.2:c.568T>C
CA349075387
NM_001353950.2:c.568T>A