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
ENSP00000460849.2:p.Phe2254Leu
CA397561942
ENST00000573725.2:c.6762C>G
CA397561943
ENST00000573725.2:c.6762C>A
CA397561954
ENST00000573725.2:c.6760T>C