Allele Registry

Canonical Allele Identifier: PA208000

Gene: RPGRIP1L HGNC NCBI

ClinVar RCV:

RCV000194076

RCV000861106

RCV001117062

RCV001117063

RCV001117064

RCV001698998

RCV001833139

RCV002517128

ClinVar Variation:

212062

HGVS (amino-acid)	Matching Registered Transcripts
NP_056087.2:p.Ile936Ser	CA207998 NM_015272.2:c.2807T>G