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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.[Thr2186delinsArgLeu;Ser2188_Trp2192delinsGlnTrpLeuArgMet;Arg2194_Lys2199delinsProProGluHisArgGln;Asn2201_Asn2202delinsGlnGln;Lys2204Gln;Tyr2206del;Ser2209_Gln2215delinsAlaPheThrLeu]
CA2808190834
ENST00000703541.1:c.6556_6557insGACT