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
XP_005255586.2:p.[Ile1692_Tyr1693delinsHisLeu;Ser1695_Asn1719delinsLeuGlnValAspCysProAlaProProHisGlnAlaAlaProProAlaAspLeuArgGlySerArgLeuLeuGln;Ser1721Gln]
CA2631118554
XM_005255529.3:c.5073_5074insC
CA2731829118
XM_005255529.3:c.5073delinsCC