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
ENSP00000494502.1:p.[Arg226_Asn227delinsGluThrHisAspValValIleGluCysAlaLysIle;Ser228_Ter229insLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHis]
CA008181
ENST00000647279.1:c.675del