ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828227139
Gene: RPGR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
454517
ClinVar RCV Id:
RCV000536819
RCV002464247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354179.1:p.Gly250Asp
CA412742559
NM_001367250.1:c.749G>A