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Canonical Allele Identifier: Get Identifier
Gene: PRPF8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000460849.2:p.[Ser2173_Gly2178delinsValAlaThrAsnGlyAlaAla;Gln2180_Asn2181delinsThrGln;Asp2183_Tyr2191delinsArgAlaThrThrProArgAlaThrCys;Pro2193_Ser2194del;Tyr2196_Glu2197delinsThrMet;Val2199_Leu2202delinsGlyCysArgCys]
CA2576113178
ENST00000573725.2:c.6516del