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"referenceAllele": "G", "start": 1523 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XR_001752670.2:n.1524G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599344" }, { "coordinates": [ { "allele": "A", "end": 1131, "referenceAllele": "G", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XR_001752671.1:n.1131G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599345" }, { "coordinates": [ { "allele": "A", "end": 1132, "referenceAllele": "G", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XR_001752672.1:n.1132G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599346" }, { "coordinates": [ { "allele": "A", "end": 1130, "referenceAllele": "G", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XR_002958079.1:n.1130G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604206" }, { "@id": "http://reg.genome.network/allele/PA332176", "coordinates": [ { "allele": "A", "end": 1094, "referenceAllele": "G", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "NM_003647.3:c.966G>A" ], "proteinEffect": { "hgvs": "NP_003638.1:p.Trp322Ter", "hgvsWellDefined": 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"NM_003647.3:c.966G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000284061.3:p.Trp322Ter" }, "RefSeq": { "hgvs": "NP_003638.1:p.Trp322Ter" } } } } ], "type": "nucleotide" }