{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA007470",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.2438A>G (p.Asn813Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=19130",
        "active": true,
        "id": "COSM19130"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49938[alleleid]",
        "alleleId": 49938,
        "preferredName": "NM_000038.6(APC):c.2438A>G (p.Asn813Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41499",
        "RCV": [
          "RCV000034381",
          "RCV000162586",
          "RCV001268977",
          "RCV003650353"
        ],
        "variationId": 41499
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112173729-A-G",
        "id": "5-112173729-A-G",
        "variant": "5:112173729 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112173729A>G?assembly=hg19",
        "id": "chr5:g.112173729A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112838032A>G?assembly=hg38",
        "id": "chr5:g.112838032A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201522866",
        "rs": 201522866
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112173729-A-G?dataset=gnomad_r2_1",
        "id": "5-112173729-A-G",
        "variant": "5:112173729 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112838032-A-G?dataset=gnomad_r3",
        "id": "5-112838032-A-G",
        "variant": "5:112838032 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112838032-A-G?dataset=gnomad_r4",
        "id": "5-112838032-A-G",
        "variant": "5:112838032 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112838032,
          "referenceAllele": "A",
          "start": 112838031
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112838032A>G",
        "CM000667.2:g.112838032A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112173729,
          "referenceAllele": "A",
          "start": 112173728
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112173729A>G",
        "CM000667.1:g.112173729A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112201628,
          "referenceAllele": "A",
          "start": 112201627
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112201628A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 150512,
          "referenceAllele": "A",
          "start": 150511
        }
      ],
      "hgvs": [
        "NG_008481.4:g.150512A>G",
        "LRG_130:g.150512A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2103,
          "referenceAllele": "A",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.2103A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:n.2103A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2548,
          "referenceAllele": "A",
          "start": 2547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.2492A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Asn831Ser",
        "hgvsWellDefined": "ENSP00000473355.2:p.Asn831Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2818,
          "referenceAllele": "A",
          "start": 2817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*2444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*2444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2580,
          "referenceAllele": "A",
          "start": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.2384A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Asn795Ser",
        "hgvsWellDefined": "ENSP00000423224.2:p.Asn795Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2588,
          "referenceAllele": "A",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.2438A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Asn813Ser",
        "hgvsWellDefined": "ENSP00000426541.2:p.Asn813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2789,
          "referenceAllele": "A",
          "start": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.2438A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Asn813Ser",
        "hgvsWellDefined": "ENSP00000423828.3:p.Asn813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2497,
          "referenceAllele": "A",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.2438A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Asn813Ser",
        "hgvsWellDefined": "ENSP00000257430.4:p.Asn813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.2438A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.2438A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Asn813Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Asn813Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2494,
          "referenceAllele": "A",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.2438A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Asn813Ser",
        "hgvsWellDefined": "ENSP00000257430.4:p.Asn813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "A",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.2:c.791A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2580,
          "referenceAllele": "A",
          "start": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.2384A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:p.Asn795Ser",
        "hgvsWellDefined": "ENSP00000423224.1:p.Asn795Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2595,
          "referenceAllele": "A",
          "start": 2594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.2438A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Asn813Ser",
        "hgvsWellDefined": "ENSP00000427089.2:p.Asn813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2683,
          "referenceAllele": "A",
          "start": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*1760A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*1760A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2585,
          "referenceAllele": "A",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.2438A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.Asn813Ser",
        "hgvsWellDefined": "ENSP00000423828.2:p.Asn813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 9060,
          "referenceAllele": "A",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 9059
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.230+9060A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA186521",
      "coordinates": [
        {
          "allele": "G",
          "end": 2523,
          "referenceAllele": "A",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.2438A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Asn813Ser",
        "hgvsWellDefined": "NP_000029.2:p.Asn813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA186522",
      "coordinates": [
        {
          "allele": "G",
          "end": 2631,
          "referenceAllele": "A",
          "start": 2630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.2438A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Asn813Ser",
        "hgvsWellDefined": "NP_001120982.1:p.Asn813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA186520",
      "coordinates": [
        {
          "allele": "G",
          "end": 2597,
          "referenceAllele": "A",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.2384A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Asn795Ser",
        "hgvsWellDefined": "NP_001120983.2:p.Asn795Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827941934",
      "coordinates": [
        {
          "allele": "G",
          "end": 2834,
          "referenceAllele": "A",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.2438A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Asn813Ser",
        "hgvsWellDefined": "NP_001341824.1:p.Asn813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916039843",
      "coordinates": [
        {
          "allele": "G",
          "end": 2577,
          "referenceAllele": "A",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.2492A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Asn831Ser",
        "hgvsWellDefined": "NP_001341825.1:p.Asn831Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827956624",
      "coordinates": [
        {
          "allele": "G",
          "end": 2681,
          "referenceAllele": "A",
          "start": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.2468A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Asn823Ser",
        "hgvsWellDefined": "NP_001341826.1:p.Asn823Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827965762",
      "coordinates": [
        {
          "allele": "G",
          "end": 2478,
          "referenceAllele": "A",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.2363A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Asn788Ser",
        "hgvsWellDefined": "NP_001341827.1:p.Asn788Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827974920",
      "coordinates": [
        {
          "allele": "G",
          "end": 2439,
          "referenceAllele": "A",
          "start": 2438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.2354A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Asn785Ser",
        "hgvsWellDefined": "NP_001341828.1:p.Asn785Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827984017",
      "coordinates": [
        {
          "allele": "G",
          "end": 2424,
          "referenceAllele": "A",
          "start": 2423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.2315A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Asn772Ser",
        "hgvsWellDefined": "NP_001341829.1:p.Asn772Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827993097",
      "coordinates": [
        {
          "allele": "G",
          "end": 2370,
          "referenceAllele": "A",
          "start": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.2261A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Asn754Ser",
        "hgvsWellDefined": "NP_001341830.1:p.Asn754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828001008",
      "coordinates": [
        {
          "allele": "G",
          "end": 2378,
          "referenceAllele": "A",
          "start": 2377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.2165A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Asn722Ser",
        "hgvsWellDefined": "NP_001341831.1:p.Asn722Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828017584",
      "coordinates": [
        {
          "allele": "G",
          "end": 2220,
          "referenceAllele": "A",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.2135A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Asn712Ser",
        "hgvsWellDefined": "NP_001341832.1:p.Asn712Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035026",
      "coordinates": [
        {
          "allele": "G",
          "end": 2175,
          "referenceAllele": "A",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.2060A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Asn687Ser",
        "hgvsWellDefined": "NP_001341833.1:p.Asn687Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828054602",
      "coordinates": [
        {
          "allele": "G",
          "end": 2067,
          "referenceAllele": "A",
          "start": 2066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.1958A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Asn653Ser",
        "hgvsWellDefined": "NP_001341834.1:p.Asn653Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828017527",
      "coordinates": [
        {
          "allele": "G",
          "end": 2709,
          "referenceAllele": "A",
          "start": 2708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.1589A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Asn530Ser",
        "hgvsWellDefined": "NP_001341835.1:p.Asn530Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA186521",
      "coordinates": [
        {
          "allele": "G",
          "end": 2497,
          "referenceAllele": "A",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.2438A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Asn813Ser",
        "hgvsWellDefined": "NP_000029.2:p.Asn813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.2438A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.2438A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Asn813Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Asn813Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA186522",
      "coordinates": [
        {
          "allele": "G",
          "end": 2605,
          "referenceAllele": "A",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.2438A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Asn813Ser",
        "hgvsWellDefined": "NP_001120982.1:p.Asn813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA186520",
      "coordinates": [
        {
          "allele": "G",
          "end": 2604,
          "referenceAllele": "A",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.2384A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Asn795Ser",
        "hgvsWellDefined": "NP_001120983.2:p.Asn795Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827941934",
      "coordinates": [
        {
          "allele": "G",
          "end": 2841,
          "referenceAllele": "A",
          "start": 2840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.2438A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Asn813Ser",
        "hgvsWellDefined": "NP_001341824.1:p.Asn813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916039843",
      "coordinates": [
        {
          "allele": "G",
          "end": 2551,
          "referenceAllele": "A",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.2492A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Asn831Ser",
        "hgvsWellDefined": "NP_001341825.1:p.Asn831Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827956624",
      "coordinates": [
        {
          "allele": "G",
          "end": 2688,
          "referenceAllele": "A",
          "start": 2687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.2468A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Asn823Ser",
        "hgvsWellDefined": "NP_001341826.1:p.Asn823Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827965762",
      "coordinates": [
        {
          "allele": "G",
          "end": 2452,
          "referenceAllele": "A",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.2363A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Asn788Ser",
        "hgvsWellDefined": "NP_001341827.1:p.Asn788Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827974920",
      "coordinates": [
        {
          "allele": "G",
          "end": 2413,
          "referenceAllele": "A",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.2354A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Asn785Ser",
        "hgvsWellDefined": "NP_001341828.1:p.Asn785Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827984017",
      "coordinates": [
        {
          "allele": "G",
          "end": 2398,
          "referenceAllele": "A",
          "start": 2397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.2315A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Asn772Ser",
        "hgvsWellDefined": "NP_001341829.1:p.Asn772Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827993097",
      "coordinates": [
        {
          "allele": "G",
          "end": 2344,
          "referenceAllele": "A",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.2261A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Asn754Ser",
        "hgvsWellDefined": "NP_001341830.1:p.Asn754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828001008",
      "coordinates": [
        {
          "allele": "G",
          "end": 2385,
          "referenceAllele": "A",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.2165A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Asn722Ser",
        "hgvsWellDefined": "NP_001341831.1:p.Asn722Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828017584",
      "coordinates": [
        {
          "allele": "G",
          "end": 2194,
          "referenceAllele": "A",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.2135A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Asn712Ser",
        "hgvsWellDefined": "NP_001341832.1:p.Asn712Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035026",
      "coordinates": [
        {
          "allele": "G",
          "end": 2149,
          "referenceAllele": "A",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.2060A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Asn687Ser",
        "hgvsWellDefined": "NP_001341833.1:p.Asn687Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828054602",
      "coordinates": [
        {
          "allele": "G",
          "end": 2041,
          "referenceAllele": "A",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.1958A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Asn653Ser",
        "hgvsWellDefined": "NP_001341834.1:p.Asn653Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828017527",
      "coordinates": [
        {
          "allele": "G",
          "end": 2683,
          "referenceAllele": "A",
          "start": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.1589A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Asn530Ser",
        "hgvsWellDefined": "NP_001341835.1:p.Asn530Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}