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
ENSP00000496398.1:p.Ser315_Lys346del
CA004628
ENST00000643362.1:c.944C>A
CA004634
ENST00000643362.1:c.944C>G