Canonical Allele Identifier: PA2827785887
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_001340887.1:p.Arg1217Gln
CA284931
NM_001353958.2:c.3650G>A