Canonical Allele Identifier: PA2826933925
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 500180
ClinVar RCV Id: RCV000598220 RCV000817532 RCV001271341 RCV002476313 RCV004530699
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001295263.1:p.Ala168Thr
CA8058113
NM_001308334.3:c.502G>A