Canonical Allele Identifier: PA2827775840
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189913
ClinVar RCV Id: RCV000180865 RCV001850417
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Asp382Glu
CA303290
NM_001353954.2:c.1146C>A
CA349071118
NM_001353954.2:c.1146C>G