Canonical Allele Identifier: PA2827752819
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68533

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Arg1245Gln
CA284931
NM_001353948.2:c.3734G>A