Canonical Allele Identifier: PA2827756992
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189913
ClinVar RCV Id: RCV000180865 RCV001850417
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Asp382Glu
CA303290
NM_001353949.2:c.1146C>A
CA349071118
NM_001353949.2:c.1146C>G