{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA007382",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.2365C>T (p.Gln789Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=13128",
        "active": true,
        "id": "COSM13128"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98252[alleleid]",
        "alleleId": 98252,
        "preferredName": "NM_000038.6(APC):c.2365C>T (p.Gln789Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92341",
        "RCV": [
          "RCV000490954",
          "RCV000657603",
          "RCV003335093"
        ],
        "variationId": 92341
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112173656C>T?assembly=hg19",
        "id": "chr5:g.112173656C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112837959C>T?assembly=hg38",
        "id": "chr5:g.112837959C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123117",
        "rs": 398123117
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112837959,
          "referenceAllele": "C",
          "start": 112837958
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112837959C>T",
        "CM000667.2:g.112837959C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112173656,
          "referenceAllele": "C",
          "start": 112173655
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112173656C>T",
        "CM000667.1:g.112173656C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112201555,
          "referenceAllele": "C",
          "start": 112201554
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112201555C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150439,
          "referenceAllele": "C",
          "start": 150438
        }
      ],
      "hgvs": [
        "NG_008481.4:g.150439C>T",
        "LRG_130:g.150439C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2030,
          "referenceAllele": "C",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.2030C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:n.2030C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2475,
          "referenceAllele": "C",
          "start": 2474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.2419C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Gln807Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2745,
          "referenceAllele": "C",
          "start": 2744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*2371C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*2371C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2507,
          "referenceAllele": "C",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.2311C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Gln771Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2515,
          "referenceAllele": "C",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.2365C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Gln789Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2716,
          "referenceAllele": "C",
          "start": 2715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.2365C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Gln789Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2424,
          "referenceAllele": "C",
          "start": 2423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.2365C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Gln789Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.2365C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.2365C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Gln789Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Gln789Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2421,
          "referenceAllele": "C",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.2365C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Gln789Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.2:c.718C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2507,
          "referenceAllele": "C",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.2311C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:p.Gln771Ter",
        "hgvsWellDefined": "ENSP00000423224.1:p.Gln771Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2522,
          "referenceAllele": "C",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.2365C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Gln789Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2610,
          "referenceAllele": "C",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*1687C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*1687C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2512,
          "referenceAllele": "C",
          "start": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.2365C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.Gln789Ter",
        "hgvsWellDefined": "ENSP00000423828.2:p.Gln789_Ala1305del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 8987,
          "referenceAllele": "C",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 8986
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.230+8987C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2450,
          "referenceAllele": "C",
          "start": 2449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.2365C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Gln789Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2558,
          "referenceAllele": "C",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.2365C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Gln789Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2524,
          "referenceAllele": "C",
          "start": 2523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.2311C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Gln771Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2761,
          "referenceAllele": "C",
          "start": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.2365C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Gln789Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2504,
          "referenceAllele": "C",
          "start": 2503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.2419C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Gln807Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2608,
          "referenceAllele": "C",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.2395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Gln799Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
          "referenceAllele": "C",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.2290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Gln764Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2366,
          "referenceAllele": "C",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.2281C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Gln761Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2351,
          "referenceAllele": "C",
          "start": 2350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.2242C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Gln748Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2297,
          "referenceAllele": "C",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.2188C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Gln730Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2305,
          "referenceAllele": "C",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Gln698Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2147,
          "referenceAllele": "C",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.2062C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Gln688Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.1987C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Gln663Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1994,
          "referenceAllele": "C",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.1885C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Gln629Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2636,
          "referenceAllele": "C",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.1516C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Gln506Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2424,
          "referenceAllele": "C",
          "start": 2423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.2365C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Gln789Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.2365C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.2365C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Gln789Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Gln789Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2532,
          "referenceAllele": "C",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.2365C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Gln789Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2531,
          "referenceAllele": "C",
          "start": 2530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.2311C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Gln771Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2768,
          "referenceAllele": "C",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.2365C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Gln789Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2478,
          "referenceAllele": "C",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.2419C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Gln807Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2615,
          "referenceAllele": "C",
          "start": 2614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.2395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Gln799Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2379,
          "referenceAllele": "C",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.2290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Gln764Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2340,
          "referenceAllele": "C",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.2281C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Gln761Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2325,
          "referenceAllele": "C",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.2242C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Gln748Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2271,
          "referenceAllele": "C",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.2188C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Gln730Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2312,
          "referenceAllele": "C",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Gln698Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "C",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.2062C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Gln688Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2076,
          "referenceAllele": "C",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.1987C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Gln663Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1968,
          "referenceAllele": "C",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.1885C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Gln629Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2610,
          "referenceAllele": "C",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.1516C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Gln506Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}