ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828226357
Gene: RPGR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000085133
RCV001854495
RCV003888465
ClinVar Variation:
98810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354178.1:p.Cys301Tyr
CA226459
NM_001367249.1:c.902G>A