Canonical Allele Identifier: PA916036626
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 194721
ClinVar RCV Id: RCV000188914 RCV000515245 RCV000724750 RCV001444749 RCV001132318 RCV002336423
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Ala347Thr
CA240854
NM_001353961.2:c.1039G>A