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_000539.2:p.[Ile1735_Tyr1736delinsHisLeu;Ser1738_Asn1762delinsLeuGlnValAspCysProAlaProProHisGlnAlaAlaProProAlaAspLeuArgGlySerArgLeuLeuGln;Ser1764Gln]
CA2631118554
NM_000548.5:c.5202_5203insC
CA2731829118
NM_000548.5:c.5202delinsCC