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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.[Thr2174_Thr2181delinsLys;Tyr2183_Thr2186del;Ser2188_Lys2204delinsValHis]
CA2808190836
ENST00000703541.1:c.6521_6524del