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: SOX2
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000323588.1:p.Ser83Ter
ENST00000325404.3:c.[241del;244_245del;24...
ENST00000325404.3:c.248C>A