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Canonical Allele Identifier: Get Identifier
Gene: PRPF8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000515362.1:p.[Trp2230Cys;Ter2287_Pro2288insTyrPheMetGlyValArgHisAspProAsnMetLysTyrGluLeuGlnLeuAlaAsnProLysGluPheTyrHisGluValHisArgProSerHisPheLeuAsnPheAlaLeuLeuGlnGluGlyGluValTyrSerAlaAspArgGluAspLeuTyrAlaTerTyrLeuGlnLeuAlaAsnProLysGluPheTyrHisGluValHisArgProSerHisPheLeuAsnPheAlaLeuLeuGlnGluGlyGluValTyrSerAlaAspArgGluAspLeuTyrAlaTer]