Canonical Allele Identifier: PA2580335015
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2119658
ClinVar RCV Id: RCV003033203

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Asp43His
CA349243124
NM_006920.6:c.127G>C