Allele Registry

Canonical Allele Identifier: PA2827322198

Gene: RPGRIP1L HGNC NCBI

ClinVar RCV:

RCV000114220

RCV000127803

RCV000291008

RCV000343585

RCV000388776

RCV001083706

RCV001271269

ClinVar Variation:

126279

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317467.1:p.Asp1230Asn	CA150948 NM_001330538.2:c.3688G>A