ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645418296
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312779
ClinVar RCV Id:
RCV000285535
RCV000345131
RCV000416234
RCV001079403
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065099.3:p.Ile17Thr
CA7088532
NM_020366.4:c.50T>C