Canonical Allele Identifier: PA2827790290
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68602
ClinVar RCV Id: RCV000059479 RCV000636356
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Val130Ala
CA285093
NM_001353961.2:c.389T>C