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
ENSP00000496262.1:p.Lys125Asn
CA048320
ENST00000644043.1:c.375G>C
CA394306751
ENST00000644043.1:c.375G>T