Canonical Allele Identifier: PA2827781588
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2036212
ClinVar RCV Id: RCV002894791
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Ile252Leu
CA349073583
NM_001353957.2:c.754A>C