Canonical Allele Identifier: PA916036674
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68533
ClinVar RCV Id: RCV000059406 RCV000636387 RCV000188926 RCV001836729
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Arg431Gln
CA284931
NM_001353961.2:c.1292G>A