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Canonical Allele Identifier: Get Identifier
Gene: PRPF8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000515362.1:p.[Thr2170_Thr2177delinsLys;Tyr2179_Thr2182del;Ser2184_Lys2200delinsValHis]
CA2808190836
ENST00000703540.1:c.6509_6512del