ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827321609
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166909
ClinVar RCV Id:
RCV000327884
RCV000284497
RCV000384916
RCV000723738
RCV001085401
RCV001831948
RCV004528883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317467.1:p.Arg747Gln
CA233780
NM_001330538.2:c.2240G>A