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
ENSP00000515362.1:p.Gln2272His
CA397561844
ENST00000703540.1:c.6816G>T
CA397561846
ENST00000703540.1:c.6816G>C