{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA009818",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.5009C>T (p.Ala1670Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139417[alleleid]",
        "alleleId": 139417,
        "preferredName": "NM_000038.6(APC):c.5009C>T (p.Ala1670Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135705",
        "RCV": [
          "RCV000122783",
          "RCV000128987",
          "RCV000236885",
          "RCV000586353",
          "RCV003534357",
          "RCV001353632"
        ],
        "variationId": 135705
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112176300-C-T",
        "id": "5-112176300-C-T",
        "variant": "5:112176300 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112176300C>T?assembly=hg19",
        "id": "chr5:g.112176300C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112840603C>T?assembly=hg38",
        "id": "chr5:g.112840603C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202228932",
        "rs": 202228932
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112176300-C-T?dataset=gnomad_r2_1",
        "id": "5-112176300-C-T",
        "variant": "5:112176300 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112840603-C-T?dataset=gnomad_r3",
        "id": "5-112840603-C-T",
        "variant": "5:112840603 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112840603-C-T?dataset=gnomad_r4",
        "id": "5-112840603-C-T",
        "variant": "5:112840603 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112840603,
          "referenceAllele": "C",
          "start": 112840602
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112840603C>T",
        "CM000667.2:g.112840603C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112176300,
          "referenceAllele": "C",
          "start": 112176299
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112176300C>T",
        "CM000667.1:g.112176300C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112204199,
          "referenceAllele": "C",
          "start": 112204198
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112204199C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 153083,
          "referenceAllele": "C",
          "start": 153082
        }
      ],
      "hgvs": [
        "NG_008481.4:g.153083C>T",
        "LRG_130:g.153083C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5119,
          "referenceAllele": "C",
          "start": 5118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.5063C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Ala1688Val",
        "hgvsWellDefined": "ENSP00000473355.2:p.Ala1688Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5389,
          "referenceAllele": "C",
          "start": 5388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*5015C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*5015C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5151,
          "referenceAllele": "C",
          "start": 5150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.4955C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Ala1652Val",
        "hgvsWellDefined": "ENSP00000423224.2:p.Ala1652Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5159,
          "referenceAllele": "C",
          "start": 5158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.5009C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Ala1670Val",
        "hgvsWellDefined": "ENSP00000426541.2:p.Ala1670Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5360,
          "referenceAllele": "C",
          "start": 5359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.5009C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Ala1670Val",
        "hgvsWellDefined": "ENSP00000423828.3:p.Ala1670Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5068,
          "referenceAllele": "C",
          "start": 5067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.5009C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ala1670Val",
        "hgvsWellDefined": "ENSP00000257430.4:p.Ala1670Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.5009C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.5009C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ala1670Val"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ala1670Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5065,
          "referenceAllele": "C",
          "start": 5064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.5009C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ala1670Val",
        "hgvsWellDefined": "ENSP00000257430.4:p.Ala1670Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.5009C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Ala1670Val",
        "hgvsWellDefined": "ENSP00000427089.2:p.Ala1670Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5254,
          "referenceAllele": "C",
          "start": 5253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*4331C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*4331C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 11631,
          "referenceAllele": "C",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 11630
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.230+11631C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA163614",
      "coordinates": [
        {
          "allele": "T",
          "end": 5094,
          "referenceAllele": "C",
          "start": 5093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.5009C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ala1670Val",
        "hgvsWellDefined": "NP_000029.2:p.Ala1670Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA163615",
      "coordinates": [
        {
          "allele": "T",
          "end": 5202,
          "referenceAllele": "C",
          "start": 5201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.5009C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ala1670Val",
        "hgvsWellDefined": "NP_001120982.1:p.Ala1670Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA163613",
      "coordinates": [
        {
          "allele": "T",
          "end": 5168,
          "referenceAllele": "C",
          "start": 5167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.4955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ala1652Val",
        "hgvsWellDefined": "NP_001120983.2:p.Ala1652Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827944796",
      "coordinates": [
        {
          "allele": "T",
          "end": 5405,
          "referenceAllele": "C",
          "start": 5404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.5009C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ala1670Val",
        "hgvsWellDefined": "NP_001341824.1:p.Ala1670Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916040476",
      "coordinates": [
        {
          "allele": "T",
          "end": 5148,
          "referenceAllele": "C",
          "start": 5147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.5063C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ala1688Val",
        "hgvsWellDefined": "NP_001341825.1:p.Ala1688Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827959483",
      "coordinates": [
        {
          "allele": "T",
          "end": 5252,
          "referenceAllele": "C",
          "start": 5251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.5039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ala1680Val",
        "hgvsWellDefined": "NP_001341826.1:p.Ala1680Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827968622",
      "coordinates": [
        {
          "allele": "T",
          "end": 5049,
          "referenceAllele": "C",
          "start": 5048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.4934C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ala1645Val",
        "hgvsWellDefined": "NP_001341827.1:p.Ala1645Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827977795",
      "coordinates": [
        {
          "allele": "T",
          "end": 5010,
          "referenceAllele": "C",
          "start": 5009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.4925C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ala1642Val",
        "hgvsWellDefined": "NP_001341828.1:p.Ala1642Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827986873",
      "coordinates": [
        {
          "allele": "T",
          "end": 4995,
          "referenceAllele": "C",
          "start": 4994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.4886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ala1629Val",
        "hgvsWellDefined": "NP_001341829.1:p.Ala1629Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827995937",
      "coordinates": [
        {
          "allele": "T",
          "end": 4941,
          "referenceAllele": "C",
          "start": 4940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.4832C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ala1611Val",
        "hgvsWellDefined": "NP_001341830.1:p.Ala1611Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828002681",
      "coordinates": [
        {
          "allele": "T",
          "end": 4949,
          "referenceAllele": "C",
          "start": 4948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.4736C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ala1579Val",
        "hgvsWellDefined": "NP_001341831.1:p.Ala1579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828023199",
      "coordinates": [
        {
          "allele": "T",
          "end": 4791,
          "referenceAllele": "C",
          "start": 4790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.4706C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ala1569Val",
        "hgvsWellDefined": "NP_001341832.1:p.Ala1569Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828042081",
      "coordinates": [
        {
          "allele": "T",
          "end": 4746,
          "referenceAllele": "C",
          "start": 4745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.4631C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ala1544Val",
        "hgvsWellDefined": "NP_001341833.1:p.Ala1544Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828007266",
      "coordinates": [
        {
          "allele": "T",
          "end": 4638,
          "referenceAllele": "C",
          "start": 4637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.4529C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ala1510Val",
        "hgvsWellDefined": "NP_001341834.1:p.Ala1510Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828022990",
      "coordinates": [
        {
          "allele": "T",
          "end": 5280,
          "referenceAllele": "C",
          "start": 5279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.4160C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ala1387Val",
        "hgvsWellDefined": "NP_001341835.1:p.Ala1387Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA163614",
      "coordinates": [
        {
          "allele": "T",
          "end": 5068,
          "referenceAllele": "C",
          "start": 5067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.5009C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ala1670Val",
        "hgvsWellDefined": "NP_000029.2:p.Ala1670Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.5009C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.5009C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ala1670Val"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ala1670Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA163615",
      "coordinates": [
        {
          "allele": "T",
          "end": 5176,
          "referenceAllele": "C",
          "start": 5175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.5009C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ala1670Val",
        "hgvsWellDefined": "NP_001120982.1:p.Ala1670Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA163613",
      "coordinates": [
        {
          "allele": "T",
          "end": 5175,
          "referenceAllele": "C",
          "start": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.4955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ala1652Val",
        "hgvsWellDefined": "NP_001120983.2:p.Ala1652Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827944796",
      "coordinates": [
        {
          "allele": "T",
          "end": 5412,
          "referenceAllele": "C",
          "start": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.5009C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ala1670Val",
        "hgvsWellDefined": "NP_001341824.1:p.Ala1670Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916040476",
      "coordinates": [
        {
          "allele": "T",
          "end": 5122,
          "referenceAllele": "C",
          "start": 5121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.5063C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ala1688Val",
        "hgvsWellDefined": "NP_001341825.1:p.Ala1688Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827959483",
      "coordinates": [
        {
          "allele": "T",
          "end": 5259,
          "referenceAllele": "C",
          "start": 5258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.5039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ala1680Val",
        "hgvsWellDefined": "NP_001341826.1:p.Ala1680Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827968622",
      "coordinates": [
        {
          "allele": "T",
          "end": 5023,
          "referenceAllele": "C",
          "start": 5022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.4934C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ala1645Val",
        "hgvsWellDefined": "NP_001341827.1:p.Ala1645Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827977795",
      "coordinates": [
        {
          "allele": "T",
          "end": 4984,
          "referenceAllele": "C",
          "start": 4983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.4925C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ala1642Val",
        "hgvsWellDefined": "NP_001341828.1:p.Ala1642Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827986873",
      "coordinates": [
        {
          "allele": "T",
          "end": 4969,
          "referenceAllele": "C",
          "start": 4968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.4886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ala1629Val",
        "hgvsWellDefined": "NP_001341829.1:p.Ala1629Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827995937",
      "coordinates": [
        {
          "allele": "T",
          "end": 4915,
          "referenceAllele": "C",
          "start": 4914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.4832C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ala1611Val",
        "hgvsWellDefined": "NP_001341830.1:p.Ala1611Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828002681",
      "coordinates": [
        {
          "allele": "T",
          "end": 4956,
          "referenceAllele": "C",
          "start": 4955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.4736C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ala1579Val",
        "hgvsWellDefined": "NP_001341831.1:p.Ala1579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828023199",
      "coordinates": [
        {
          "allele": "T",
          "end": 4765,
          "referenceAllele": "C",
          "start": 4764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.4706C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ala1569Val",
        "hgvsWellDefined": "NP_001341832.1:p.Ala1569Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828042081",
      "coordinates": [
        {
          "allele": "T",
          "end": 4720,
          "referenceAllele": "C",
          "start": 4719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.4631C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ala1544Val",
        "hgvsWellDefined": "NP_001341833.1:p.Ala1544Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828007266",
      "coordinates": [
        {
          "allele": "T",
          "end": 4612,
          "referenceAllele": "C",
          "start": 4611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.4529C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ala1510Val",
        "hgvsWellDefined": "NP_001341834.1:p.Ala1510Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828022990",
      "coordinates": [
        {
          "allele": "T",
          "end": 5254,
          "referenceAllele": "C",
          "start": 5253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.4160C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ala1387Val",
        "hgvsWellDefined": "NP_001341835.1:p.Ala1387Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}