Allele Registry

Canonical Allele Identifier: PA2828731837

Gene: RPGRIP1 HGNC NCBI

ClinVar Allele:

431774

ClinVar RCV:

RCV000504829

RCV001215982

RCV002230986

ClinVar Variation:

438161

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364877.1:p.Glu442Lys	CA7089253 NM_001377948.1:c.1324G>A