Canonical Allele Identifier: PA2828225562
Gene: RPGR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001354176.1:p.Leu500Phe
CA10385475
NM_001367247.1:c.1500A>C
CA412737732
NM_001367247.1:c.1500A>T