Canonical Allele Identifier: PA2825661643
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 283929
ClinVar RCV Id: RCV000375576 RCV001117358 RCV001117360 RCV001241000 RCV001833330 RCV002487213 RCV004017583 RCV004535307 RCV001117359
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121369.1:p.Arg321His
CA8057968
NM_001127897.1:c.962G>A