Canonical Allele Identifier: PA2828224729
Gene: RPGR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001354175.1:p.Glu395Asp
CA10385488
NM_001367246.1:c.1185G>C
CA412739429
NM_001367246.1:c.1185G>T