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"referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828048689", "coordinates": [ { "allele": "A", "end": 7533, "referenceAllele": "G", "start": 7532 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.7444G>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ala2482Thr", "hgvsWellDefined": "NP_001341833.1:p.Ala2482Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828013014", "coordinates": [ { "allele": "A", "end": 7425, "referenceAllele": "G", "start": 7424 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.7342G>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ala2448Thr", "hgvsWellDefined": "NP_001341834.1:p.Ala2448Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828029193", "coordinates": [ { "allele": "A", "end": 8067, "referenceAllele": "G", "start": 8066 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.6973G>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ala2325Thr", "hgvsWellDefined": "NP_001341835.1:p.Ala2325Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }