ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645418353
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312783
ClinVar RCV Id:
RCV000329549
RCV000384076
RCV000983971
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065099.3:p.Met220Val
CA7088724
NM_020366.4:c.658A>G