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: TSC1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001349106.1:p.Arg124Ter
NM_001362177.1:c.[369del;371G>T]
NM_001362177.1:c.[369del;371G>T;373A>G]
NM_001362177.1:c.370C>T