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
XP_024306305.1:p.Asn2280Lys	CA397563621 XM_024450537.1:c.6840C>G CA397563622 XM_024450537.1:c.6840C>A