Canonical Allele Identifier: PA2827768861
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2119658
ClinVar RCV Id: RCV003033203

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Asp43His
CA349243124
NM_001353951.2:c.127G>C