Allele Registry

Canonical Allele Identifier: PA2827321349

Gene: RPGRIP1L HGNC NCBI

ClinVar Allele:

409651

ClinVar RCV:

RCV000765296

RCV000862031

RCV001696865

RCV004535531

ClinVar Variation:

423510

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317467.1:p.Leu554Ile	CA8057740 NM_001330538.2:c.1660C>A