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: UROS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000366.1:p.Cys265_Ter266insGlyValSerHisLeuAlaLeuAlaProCysSerLeuProGlyLeuGlyTrpLeuTrpMetGluProGlyIleGlyLysGlySerArgGluLeuLeuProSerAspSerCysLeuLysProGluTrpLysHisLeuArgThrGlyAspArgAspLeuThrTrpGlyTrpProGlnAlaHisValHisValThrAlaLeuCysGlySerGlnLeuLysPro
CA378685453
NM_000375.3:c.796T>G