Canonical Allele Identifier: PA2827321405
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 289611
ClinVar RCV Id: RCV000264423 RCV000303891 RCV000361003 RCV000726350 RCV001054615 RCV001833391 RCV000765294 RCV002522007 RCV004543128
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317467.1:p.Glu604Lys
CA8057696
NM_001330538.2:c.1810G>A