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
ENSP00000444017.1:p.[Cys255_Thr259delinsLeuCysTyrPheTyr;Tyr261_Ser281delinsLeuLeuHisValSerAlaAspValValLysTyrAlaArgAlaAlaThrSerAspSerGluPhe;Ser283_Thr284delinsIleAsp]
CA2695211685
ENST00000545250.5:c.763dup