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Canonical Allele Identifier: Get Identifier
Gene: PRPF8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000515363.1:p.[Ser2188_Gly2193delinsValAlaThrAsnGlyAlaAla;Gln2195_Asn2196delinsThrGln;Asp2198_Tyr2206delinsArgAlaThrThrProArgAlaThrCys;Pro2208_Ser2209del;Tyr2211_Glu2212delinsThrMet;Val2214_Leu2217delinsGlyCysArgCys]
CA2576113178
ENST00000703541.1:c.6561del