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
ENSP00000493639.1:p.Tyr253_Pro347del
CA008375
ENST00000645129.1:c.759T>G
CA375368966
ENST00000645129.1:c.759T>A