Canonical Allele Identifier: PA2828226606
Gene: RPGR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001354178.1:p.Glu480Asp
CA10385478
NM_001367249.1:c.1440A>C
CA412737858
NM_001367249.1:c.1440A>T