Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000515363.1:p.Asp2198Glu	CA397564007 ENST00000703541.1:c.6594C>G CA397564009 ENST00000703541.1:c.6594C>A