ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828227050
Gene: RPGR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9916
ClinVar RCV Id:
RCV003151715
RCV003128227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354179.1:p.Gly173Arg
CA120805
NM_001367250.1:c.517G>C