Canonical Allele Identifier: PA2827781842
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 579253
ClinVar RCV Id: RCV000702492
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Ala394Gly
CA349071032
NM_001353957.2:c.1181C>G
CA891842517
NM_001353957.2:c.1181_1182delinsGA