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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.[Tyr2274_Ala2275insProGlu;Ala2275_Ter2276insGluAlaSerAlaProProAspArgProLeuThrPheSerSerLeuAlaSerPheProLeuSerValLeuValLeuLeuThr]
CA2580092430
ENST00000573725.2:c.6823_*27del