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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.[Lys2302_Phe2314delinsProGlnArgValLeuProArgGlyAlaGlnAlaLeuSer;Asn2316_Glu2322delinsProGlnLeuCysSerProAla;Glu2324_Glu2331delinsGlyGlyGlyLeuLeuCysGlySerGly]
CA2635248639
ENST00000572621.5:c.6900_6903dup