Allele Registry

Canonical Allele Identifier: PA2827322050

Gene: RPGRIP1L HGNC NCBI

ClinVar Allele:

255807

ClinVar RCV:

RCV000249264

RCV001115540

RCV001115541

RCV001115542

RCV001317646

ClinVar Variation:

260607

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317467.1:p.Ile1117Leu	CA8057277 NM_001330538.2:c.3349A>C