Canonical Allele Identifier: PA2827787235
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68517
ClinVar RCV Id: RCV000059389

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Asp79His
CA284892
NM_001353960.2:c.235G>C