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
ENSP00000460348.1:p.Asn2282Lys	CA397563598 ENST00000572621.5:c.6846C>G CA397563599 ENST00000572621.5:c.6846C>A