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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.[Thr2219_Thr2226delinsLys;Tyr2228_Thr2231del;Ser2233_Lys2249delinsValHis]
CA2808190836
ENST00000572621.5:c.6656_6659del