ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828225282
Gene: RPGR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354176.1:p.Cys250Tyr
CA412742575
NM_001367247.1:c.749G>A