ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916046292
Gene: RPGR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143094
ClinVar RCV Id:
RCV000132614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354177.1:p.Ala318Pro
CA270037
NM_001367248.1:c.952G>C