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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.[Thr2171delinsArgLeu;Ser2173_Trp2177delinsGlnTrpLeuArgMet;Arg2179_Lys2184delinsProProGluHisArgGln;Asn2186_Asn2187delinsGlnGln;Lys2189Gln;Tyr2191del;Ser2194_Gln2200delinsAlaPheThrLeu]
CA2808190834
ENST00000573725.2:c.6511_6512insGACT