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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.[Thr2224_Thr2231delinsArgArg;Ser2233_Asn2241del;Asp2243_Pro2253del]
CA2808190835
ENST00000572621.5:c.6671_6674del