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.Trp196_Pro347del
CA375369743
ENST00000645129.1:c.588G>A
CA375369745
ENST00000645129.1:c.587G>A