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
ENSP00000460849.2:p.Met2232Leu	CA397562481 ENST00000573725.2:c.6694A>T CA397562487 ENST00000573725.2:c.6694A>C