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
ENSP00000494365.1:p.[Cys306_Thr310delinsLeuCysTyrPheTyr;Tyr312_Ser332delinsLeuLeuHisValSerAlaAspValValLysTyrAlaArgAlaAlaThrSerAspSerGluPhe;Ser334_Thr335delinsIleAsp]
CA2695211685
ENST00000645150.1:c.916dup