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: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000496611.1:p.Arg1000Ser
CA394285119
ENST00000644329.1:c.3000G>C
CA394285127
ENST00000644329.1:c.3000G>T