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}, "referenceSequence": "http://reg.genome.network/refseq/RS578894" }, { "coordinates": [ { "allele": "T", "end": 4885, "referenceAllele": "A", "start": 4884 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.4762A>T" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Lys1588Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "coordinates": [ { "allele": "T", "end": 5023, "referenceAllele": "A", "start": 5022 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.4786A>T" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Lys1596Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.4786A>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.4786A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Lys1596Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Lys1596Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 782, "referenceAllele": "A", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.763A>T" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Lys255Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "A", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.754A>T" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Lys252Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" } ], "type": "nucleotide" }