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
XP_024306305.1:p.Ala2335_Ter2336insArgProPheProCysLeuLeuLeuGlnProProGluAlaGluAlaSerAlaProProAspArgProLeuThrPheSerSerLeuAlaSerPheProLeuSerValLeuValLeuLeuThrSer
CA397561650
XM_024450537.1:c.7006T>C
CA397561652
XM_024450537.1:c.7006T>A