ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825376214
Gene: RPGR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193808
ClinVar RCV Id:
RCV000173995
RCV001353107
RCV001360742
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001030025.1:p.Cys450Arg
CA239469
NM_001034853.2:c.1348T>C