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
XP_011509902.1:p.Ser1750_Ser1751delinsArg
XM_011511600.1:c.5250_5252del