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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.[Thr2164_Thr2171delinsArgArg;Ser2173_Asn2181del;Asp2183_Pro2193del]
CA2808190835
ENST00000573725.2:c.6491_6494del