Canonical Allele Identifier: PA251690
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 1069
ClinVar RCV Id: RCV000001124 RCV000393725 RCV000689745 RCV001271279 RCV002482812 RCV003155007 RCV004528062
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121369.1:p.Thr615Pro
CA251689
NM_001127897.1:c.1843A>C