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.[Val2286_His2288del;Pro2290_Asn2291delinsPheGly;Lys2293_Asn2300delinsThr;Lys2302_Leu2315delinsThr]
CA2808190797
ENST00000572621.5:c.6856_6857insAC