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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.[Tyr2285_Ala2286insProGlu;Ala2286_Ter2287insGluAlaSerAlaProProAspArgProLeuThrPheSerSerLeuAlaSerPheProLeuSerValLeuValLeuLeuThr]
CA2580092430
ENST00000703540.1:c.6856_*27del