Canonical Allele Identifier: PA2828227817
Gene: RPGR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001354180.1:p.Glu419Asp
CA10385478
NM_001367251.1:c.1257A>C
CA412737858
NM_001367251.1:c.1257A>T