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Canonical Allele Identifier: Get Identifier
Gene: PRPF8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000460348.1:p.[Thr2231delinsArgLeu;Ser2233_Trp2237delinsGlnTrpLeuArgMet;Arg2239_Lys2244delinsProProGluHisArgGln;Asn2246_Asn2247delinsGlnGln;Lys2249Gln;Tyr2251del;Ser2254_Gln2260delinsAlaPheThrLeu]
CA2808190834
ENST00000572621.5:c.6691_6692insGACT