Allele Registry

Canonical Allele Identifier: PA2499274118

Gene: PRPF8 HGNC NCBI

ClinVar Allele:

1054116

ClinVar RCV:

RCV001376348

RCV003542343

ClinVar Variation:

1065709

HGVS (amino-acid)	Matching Registered Transcripts
NP_006436.3:p.His2309Leu	CA397562042 NM_006445.4:c.6926A>T