Allele Registry

Canonical Allele Identifier: PA109620

Gene: PRPF8 HGNC NCBI

ClinVar Variation Id: 1066428

ClinVar RCV Id: RCV001377430

ClinVar Variation Id: 2137870

ClinVar RCV Id: RCV003058515

HGVS (amino-acid)	Matching Registered Transcripts
NP_006436.3:p.Phe2314Leu	CA397561942 NM_006445.4:c.6942C>G CA397561943 NM_006445.4:c.6942C>A CA397561954 NM_006445.4:c.6940T>C