Canonical Allele Identifier: PA2827321161
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 319664
ClinVar RCV Id: RCV000272277 RCV000308698 RCV000362256 RCV001239253 RCV001828320 RCV002487410 RCV004537802 RCV004021665
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317467.1:p.Tyr362Cys
CA8057930
NM_001330538.2:c.1085A>G