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
ENSP00000495830.2:p.Met322Thr
CA008447
ENST00000646440.2:c.965T>C
CA915947255
ENST00000646440.2:c.965_966delinsCT
CA2499219723
ENST00000646440.2:c.965_966delinsCA