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
XP_016870585.1:p.Arg245Ter
XM_017015096.1:c.[732del;734G>T]
XM_017015096.1:c.[732del;734G>T;736A>G]
XM_017015096.1:c.733C>T
