This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: TSC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000493639.2:p.Arg139Pro
CA007774
ENST00000645129.2:c.416G>C
CA2573144299
ENST00000645129.2:c.416_417delinsCT