ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828226575
Gene: RPGR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000173995
RCV001353107
RCV001360742
ClinVar Variation:
193808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354178.1:p.Cys449Arg
CA239469
NM_001367249.1:c.1345T>C