Canonical Allele Identifier: PA2827766082
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189879
ClinVar RCV Id: RCV000180832

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Ala1244Pro
CA303188
NM_001353950.2:c.3730G>C