ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: SCN1A
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001340887.1:p.Thr199Arg
NM_001353958.2:c.[591del;593T>A;595A>C;59...
NM_001353958.2:c.[591del;593T>A;595A>T;59...
NM_001353958.2:c.[591del;593T>A;597A>G;60...
NM_001353958.2:c.[594del;597A>G;600dup]
NM_001353958.2:c.596C>G