This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PRPF8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000460348.1:p.[Tyr2334_Ala2335insProGlu;Ala2335_Ter2336insGluAlaSerAlaProProAspArgProLeuThrPheSerSerLeuAlaSerPheProLeuSerValLeuValLeuLeuThr]
CA2580092430
ENST00000572621.5:c.7003_*27del