Canonical Allele Identifier: PA2826934098
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 235423
ClinVar RCV Id: RCV000224232 RCV000253760 RCV001079549 RCV001120843 RCV001120842 RCV001120844 RCV001833234 RCV004529384
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001295263.1:p.Ile389Val
CA8057886
NM_001308334.3:c.1165A>G