{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279677",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.1312+1G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4166472",
        "active": true,
        "id": "COSM4166472"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214681[alleleid]",
        "alleleId": 214681,
        "preferredName": "NM_000038.6(APC):c.1312+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217923",
        "RCV": [
          "RCV000202015",
          "RCV001354196",
          "RCV002517320",
          "RCV003335198",
          "RCV000493121"
        ],
        "variationId": 217923
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112155042G>A?assembly=hg19",
        "id": "chr5:g.112155042G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112819345G>A?assembly=hg38",
        "id": "chr5:g.112819345G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225310",
        "rs": 863225310
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112819345,
          "referenceAllele": "G",
          "start": 112819344
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112819345G>A",
        "CM000667.2:g.112819345G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112155042,
          "referenceAllele": "G",
          "start": 112155041
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112155042G>A",
        "CM000667.1:g.112155042G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112182941,
          "referenceAllele": "G",
          "start": 112182940
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112182941G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 131825,
          "referenceAllele": "G",
          "start": 131824
        }
      ],
      "hgvs": [
        "NG_008481.4:g.131825G>A",
        "LRG_130:g.131825G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1312,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1312,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1368,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1368,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1368,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1368,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505084.2:n.1368+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1692,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1692,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*1318+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*1318+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1454,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.1258+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:n.1258+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1462,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1462,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1663,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1663,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1371,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1371,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.1312+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.1312+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:n.1312+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:n.1312+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1368,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1368,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1454,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.1258+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:n.1258+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1469,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1469,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1557,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1557,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*634+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*634+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1459,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1459,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1397,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1505,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1505,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1471,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1471,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.1258+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:n.1258+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1708,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1708,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1397,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1555,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1555,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.1342+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:n.1342+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1352,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1352,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.1237+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:n.1237+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1313,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1313,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.1228+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:n.1228+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1244,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1244,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.1135+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:n.1135+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1244,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1244,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.1135+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:n.1135+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1252,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1252,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.1039+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:n.1039+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1094,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1094,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.1009+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:n.1009+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1049,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1049,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.934+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:n.934+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 941,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 941,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.832+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:n.832+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1583,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.463+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:n.463+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1371,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1371,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.1312+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.1312+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:n.1312+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:n.1312+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1478,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.1258+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:n.1258+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1715,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1715,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1371,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1371,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.1312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:n.1312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1562,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1562,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.1342+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:n.1342+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1326,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.1237+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:n.1237+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1287,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1287,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.1228+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:n.1228+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1218,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1218,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.1135+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:n.1135+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1218,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1218,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.1135+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:n.1135+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1259,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.1039+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:n.1039+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1068,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.1009+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:n.1009+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1023,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1023,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.934+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:n.934+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 915,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 915,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.832+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:n.832+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1557,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1557,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.463+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:n.463+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}