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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.[Ser2184_Gly2189delinsValAlaThrAsnGlyAlaAla;Gln2191_Asn2192delinsThrGln;Asp2194_Tyr2202delinsArgAlaThrThrProArgAlaThrCys;Pro2204_Ser2205del;Tyr2207_Glu2208delinsThrMet;Val2210_Leu2213delinsGlyCysArgCys]
CA2576113178
ENST00000703540.1:c.6549del