{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA007554",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.2510C>G (p.Ser837Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3607572",
        "active": true,
        "id": "COSM3607572"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=93522[alleleid]",
        "alleleId": 93522,
        "preferredName": "NM_000038.6(APC):c.2510C>G (p.Ser837Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/82631",
        "RCV": [
          "RCV000073620",
          "RCV002426625",
          "RCV003534325"
        ],
        "variationId": 82631
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112173801C>G?assembly=hg19",
        "id": "chr5:g.112173801C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112838104C>G?assembly=hg38",
        "id": "chr5:g.112838104C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/79512956",
        "rs": 79512956
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112838104,
          "referenceAllele": "C",
          "start": 112838103
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112838104C>G",
        "CM000667.2:g.112838104C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112173801,
          "referenceAllele": "C",
          "start": 112173800
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112173801C>G",
        "CM000667.1:g.112173801C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112201700,
          "referenceAllele": "C",
          "start": 112201699
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112201700C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 150584,
          "referenceAllele": "C",
          "start": 150583
        }
      ],
      "hgvs": [
        "NG_008481.4:g.150584C>G",
        "LRG_130:g.150584C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2175,
          "referenceAllele": "C",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.2175C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:n.2175C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2620,
          "referenceAllele": "C",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.2564C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Ser855Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2890,
          "referenceAllele": "C",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*2516C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*2516C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2652,
          "referenceAllele": "C",
          "start": 2651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.2456C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Ser819Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2660,
          "referenceAllele": "C",
          "start": 2659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.2510C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Ser837Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2861,
          "referenceAllele": "C",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.2510C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Ser837Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2569,
          "referenceAllele": "C",
          "start": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.2510C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ser837Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.2510C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.2510C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ser837Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ser837Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2566,
          "referenceAllele": "C",
          "start": 2565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.2510C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ser837Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "C",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.2:c.863C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2652,
          "referenceAllele": "C",
          "start": 2651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.2456C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:p.Ser819Ter",
        "hgvsWellDefined": "ENSP00000423224.1:p.Ser819Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2667,
          "referenceAllele": "C",
          "start": 2666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.2510C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Ser837Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2755,
          "referenceAllele": "C",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*1832C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*1832C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2657,
          "referenceAllele": "C",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.2510C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.Ser837Ter",
        "hgvsWellDefined": "ENSP00000423828.2:p.Ser837_Ala1305del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 9132,
          "referenceAllele": "C",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 9131
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.230+9132C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2595,
          "referenceAllele": "C",
          "start": 2594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.2510C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ser837Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2703,
          "referenceAllele": "C",
          "start": 2702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.2510C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ser837Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2669,
          "referenceAllele": "C",
          "start": 2668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.2456C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ser819Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2906,
          "referenceAllele": "C",
          "start": 2905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.2510C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ser837Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2649,
          "referenceAllele": "C",
          "start": 2648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.2564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ser855Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2753,
          "referenceAllele": "C",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.2540C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ser847Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2550,
          "referenceAllele": "C",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.2435C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ser812Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2511,
          "referenceAllele": "C",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.2426C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ser809Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2496,
          "referenceAllele": "C",
          "start": 2495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.2387C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ser796Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2442,
          "referenceAllele": "C",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.2333C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ser778Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2450,
          "referenceAllele": "C",
          "start": 2449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.2237C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ser746Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2292,
          "referenceAllele": "C",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.2207C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ser736Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2247,
          "referenceAllele": "C",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.2132C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ser711Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2139,
          "referenceAllele": "C",
          "start": 2138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.2030C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ser677Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2781,
          "referenceAllele": "C",
          "start": 2780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.1661C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ser554Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2569,
          "referenceAllele": "C",
          "start": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.2510C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ser837Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.2510C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.2510C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ser837Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ser837Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2677,
          "referenceAllele": "C",
          "start": 2676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.2510C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ser837Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2676,
          "referenceAllele": "C",
          "start": 2675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.2456C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ser819Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2913,
          "referenceAllele": "C",
          "start": 2912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.2510C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ser837Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2623,
          "referenceAllele": "C",
          "start": 2622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.2564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ser855Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2760,
          "referenceAllele": "C",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.2540C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ser847Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2524,
          "referenceAllele": "C",
          "start": 2523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.2435C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ser812Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2485,
          "referenceAllele": "C",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.2426C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ser809Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2470,
          "referenceAllele": "C",
          "start": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.2387C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ser796Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2416,
          "referenceAllele": "C",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.2333C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ser778Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2457,
          "referenceAllele": "C",
          "start": 2456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.2237C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ser746Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.2207C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ser736Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2221,
          "referenceAllele": "C",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.2132C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ser711Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2113,
          "referenceAllele": "C",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.2030C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ser677Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2755,
          "referenceAllele": "C",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.1661C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ser554Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}