Canonical Allele Identifier: PA2827753130
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2203183
ClinVar RCV Id: RCV002651542

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Ser1328Pro
CA349052944
NM_001353948.2:c.3982T>C