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_001107854.1:p.[Lys1716_Asn1739delinsGlyLeuProGlySerAlaThrSerSerGlySerAlaSerGlySerAlaArgLysProProThrProThr;Ser1741_Pro1743delinsAlaTyr;Val1745Trp]
CA022151
NM_001114382.3:c.5142_5145del