Canonical Allele Identifier: PA2828225509
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_001354176.1:p.Cys450Arg
CA239469
NM_001367247.1:c.1348T>C