Allele Registry

Canonical Allele Identifier: PA109576

Gene: PRPF8 HGNC NCBI

ClinVar Variation Id: 3357

HGVS (amino-acid)	Matching Registered Transcripts
NP_006436.3:p.Arg2310Lys	CA252742 NM_006445.4:c.6929G>A