Allele Registry

Canonical Allele Identifier: PA2826934759

Gene: RPGRIP1L HGNC NCBI

ClinVar RCV:

RCV000114220

RCV000127803

RCV000291008

RCV000343585

RCV000388776

RCV001083706

RCV001271269

ClinVar Variation:

126279

HGVS (amino-acid)	Matching Registered Transcripts
NP_001295263.1:p.Asp1218Asn	CA150948 NM_001308334.3:c.3652G>A