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_001305760.1:p.[Asn1487Thr;Thr1489_Tyr1492delinsProIleSerThr;Ser1494_Tyr1516delinsProSerGlyLeuProGlySerAlaThrSerSerGlySerAlaSerGlySerAlaArgLysProProThr]
CA022102
NM_001318831.2:c.4460del