Allele Registry

Canonical Allele Identifier: PA210652

Gene: RPGRIP1L HGNC NCBI

ClinVar RCV:

RCV000001135

RCV000201757

ClinVar Variation:

1080

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121369.1:p.Ser659Pro	CA210651 NM_001127897.1:c.1975T>C