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"DMD", "hgvs": [ "NM_004023.3:c.375G>A" ], "proteinEffect": { "hgvs": "NP_004014.2:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "coordinates": [ { "allele": "A", "end": 1416, "referenceAllele": "G", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.375G>A" ], "proteinEffect": { "hgvs": "NP_004004.2:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "@id": "http://reg.genome.network/allele/PA2829508260", "coordinates": [ { "allele": "A", "end": 1416, "referenceAllele": "G", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.375G>A" ], "proteinEffect": { "hgvs": "NP_004011.3:p.Trp125Ter", "hgvsWellDefined": 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