ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670917
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_000319.1:p.Gly251Asp
CA412742559
NM_000328.3:c.752G>A