Canonical Allele Identifier: PA233781
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 166909
ClinVar RCV Id: RCV000327884 RCV000284497 RCV000384916 RCV000723738 RCV001085401 RCV001831948 RCV004528883
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121369.1:p.Arg747Gln
CA233780
NM_001127897.1:c.2240G>A