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
NP_001357334.1:p.Lys1000Asn
CA394285002
NM_001370405.1:c.3000G>C
CA394285006
NM_001370405.1:c.3000G>T