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
ENSP00000460849.2:p.Ala2275_Ter2276insArgProPheProCysLeuLeuLeuGlnProProGluAlaGluAlaSerAlaProProAspArgProLeuThrPheSerSerLeuAlaSerPheProLeuSerValLeuValLeuLeuThrSer
CA397561650
ENST00000573725.2:c.6826T>C
CA397561652
ENST00000573725.2:c.6826T>A