Canonical Allele Identifier: PA2827322050
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 260607
ClinVar RCV Id: RCV000249264 RCV001115542 RCV001115540 RCV001115541 RCV001317646
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317467.1:p.Ile1117Leu
CA8057277
NM_001330538.2:c.3349A>C