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
ENSP00000495428.2:p.Val723Leu
CA375360790
ENST00000644184.2:c.2167G>C
CA375360792
ENST00000644184.2:c.2167G>T