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)
Matching Registered Transcripts
ENSP00000493639.1:p.Trp296_Pro347del
CA004349
ENST00000645129.1:c.887G>A
CA004355
ENST00000645129.1:c.888G>A