Canonical Allele Identifier: PA2827321511
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 319661
ClinVar RCV Id: RCV000300536 RCV000352999 RCV000402360 RCV000467631 RCV001271328
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317467.1:p.Glu654Lys
CA8057665
NM_001330538.2:c.1960G>A