Canonical Allele Identifier: PA916036747
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189942
ClinVar RCV Id: RCV000180895 RCV002515210
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Ser548Arg
CA303364
NM_001353961.2:c.1644C>G
CA349050513
NM_001353961.2:c.1644C>A
CA349050537
NM_001353961.2:c.1642A>C