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
ENSP00000460348.1:p.Met2292Ile
CA397562446
ENST00000572621.5:c.6876G>T
CA397562454
ENST00000572621.5:c.6876G>C
CA397562458
ENST00000572621.5:c.6876G>A