Allele Registry

Canonical Allele Identifier: PA2828731936

Gene: RPGRIP1 HGNC NCBI

ClinVar Allele:

528035

ClinVar RCV:

RCV000641903

RCV001113279

RCV001114650

ClinVar Variation:

534365

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364877.1:p.Ala602Pro	CA7089360 NM_001377948.1:c.1804G>C