Canonical Allele Identifier: PA2827321371
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 235333
ClinVar RCV Id: RCV000224936 RCV000272739 RCV000321854 RCV000364967 RCV001280344 RCV001854774 RCV002500747 RCV002519757 RCV004529383
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317467.1:p.Tyr579Cys
CA8057711
NM_001330538.2:c.1736A>G