{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA012738",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.6985A>G (p.Ile2329Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2991094",
        "active": true,
        "id": "COSM2991094"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139428[alleleid]",
        "alleleId": 139428,
        "preferredName": "NM_000038.6(APC):c.6985A>G (p.Ile2329Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135716",
        "RCV": [
          "RCV000131625",
          "RCV000148359",
          "RCV000211933",
          "RCV001719892",
          "RCV003905173",
          "RCV003743581",
          "RCV003153405",
          "RCV000987581",
          "RCV001151806"
        ],
        "variationId": 135716
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112178276-A-G",
        "id": "5-112178276-A-G",
        "variant": "5:112178276 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112178276A>G?assembly=hg19",
        "id": "chr5:g.112178276A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112842579A>G?assembly=hg38",
        "id": "chr5:g.112842579A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146048493",
        "rs": 146048493
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112178276-A-G?dataset=gnomad_r2_1",
        "id": "5-112178276-A-G",
        "variant": "5:112178276 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112842579-A-G?dataset=gnomad_r3",
        "id": "5-112842579-A-G",
        "variant": "5:112842579 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112842579-A-G?dataset=gnomad_r4",
        "id": "5-112842579-A-G",
        "variant": "5:112842579 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112842579,
          "referenceAllele": "A",
          "start": 112842578
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112842579A>G",
        "CM000667.2:g.112842579A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112178276,
          "referenceAllele": "A",
          "start": 112178275
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112178276A>G",
        "CM000667.1:g.112178276A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112206175,
          "referenceAllele": "A",
          "start": 112206174
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112206175A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155059,
          "referenceAllele": "A",
          "start": 155058
        }
      ],
      "hgvs": [
        "NG_008481.4:g.155059A>G",
        "LRG_130:g.155059A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7095,
          "referenceAllele": "A",
          "start": 7094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.7039A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Ile2347Val",
        "hgvsWellDefined": "ENSP00000473355.2:p.Ile2347Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7365,
          "referenceAllele": "A",
          "start": 7364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*6991A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*6991A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7127,
          "referenceAllele": "A",
          "start": 7126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.6931A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Ile2311Val",
        "hgvsWellDefined": "ENSP00000423224.2:p.Ile2311Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7135,
          "referenceAllele": "A",
          "start": 7134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.6985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Ile2329Val",
        "hgvsWellDefined": "ENSP00000426541.2:p.Ile2329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7336,
          "referenceAllele": "A",
          "start": 7335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.6985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Ile2329Val",
        "hgvsWellDefined": "ENSP00000423828.3:p.Ile2329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7044,
          "referenceAllele": "A",
          "start": 7043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.6985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ile2329Val",
        "hgvsWellDefined": "ENSP00000257430.4:p.Ile2329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.6985A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.6985A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ile2329Val"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ile2329Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7041,
          "referenceAllele": "A",
          "start": 7040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.6985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ile2329Val",
        "hgvsWellDefined": "ENSP00000257430.4:p.Ile2329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7142,
          "referenceAllele": "A",
          "start": 7141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.6985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Ile2329Val",
        "hgvsWellDefined": "ENSP00000427089.2:p.Ile2329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7230,
          "referenceAllele": "A",
          "start": 7229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*6307A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*6307A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 13607,
          "referenceAllele": "A",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 13606
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.230+13607A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA211338",
      "coordinates": [
        {
          "allele": "G",
          "end": 7070,
          "referenceAllele": "A",
          "start": 7069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.6985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ile2329Val",
        "hgvsWellDefined": "NP_000029.2:p.Ile2329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA211339",
      "coordinates": [
        {
          "allele": "G",
          "end": 7178,
          "referenceAllele": "A",
          "start": 7177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.6985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ile2329Val",
        "hgvsWellDefined": "NP_001120982.1:p.Ile2329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA211337",
      "coordinates": [
        {
          "allele": "G",
          "end": 7144,
          "referenceAllele": "A",
          "start": 7143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.6931A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ile2311Val",
        "hgvsWellDefined": "NP_001120983.2:p.Ile2311Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827946973",
      "coordinates": [
        {
          "allele": "G",
          "end": 7381,
          "referenceAllele": "A",
          "start": 7380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.6985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ile2329Val",
        "hgvsWellDefined": "NP_001341824.1:p.Ile2329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916041262",
      "coordinates": [
        {
          "allele": "G",
          "end": 7124,
          "referenceAllele": "A",
          "start": 7123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.7039A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ile2347Val",
        "hgvsWellDefined": "NP_001341825.1:p.Ile2347Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827961662",
      "coordinates": [
        {
          "allele": "G",
          "end": 7228,
          "referenceAllele": "A",
          "start": 7227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.7015A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ile2339Val",
        "hgvsWellDefined": "NP_001341826.1:p.Ile2339Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827970799",
      "coordinates": [
        {
          "allele": "G",
          "end": 7025,
          "referenceAllele": "A",
          "start": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.6910A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ile2304Val",
        "hgvsWellDefined": "NP_001341827.1:p.Ile2304Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827979972",
      "coordinates": [
        {
          "allele": "G",
          "end": 6986,
          "referenceAllele": "A",
          "start": 6985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.6901A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ile2301Val",
        "hgvsWellDefined": "NP_001341828.1:p.Ile2301Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827989050",
      "coordinates": [
        {
          "allele": "G",
          "end": 6971,
          "referenceAllele": "A",
          "start": 6970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.6862A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ile2288Val",
        "hgvsWellDefined": "NP_001341829.1:p.Ile2288Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827998115",
      "coordinates": [
        {
          "allele": "G",
          "end": 6917,
          "referenceAllele": "A",
          "start": 6916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.6808A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ile2270Val",
        "hgvsWellDefined": "NP_001341830.1:p.Ile2270Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828003869",
      "coordinates": [
        {
          "allele": "G",
          "end": 6925,
          "referenceAllele": "A",
          "start": 6924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.6712A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ile2238Val",
        "hgvsWellDefined": "NP_001341831.1:p.Ile2238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828027528",
      "coordinates": [
        {
          "allele": "G",
          "end": 6767,
          "referenceAllele": "A",
          "start": 6766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.6682A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ile2228Val",
        "hgvsWellDefined": "NP_001341832.1:p.Ile2228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828046720",
      "coordinates": [
        {
          "allele": "G",
          "end": 6722,
          "referenceAllele": "A",
          "start": 6721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.6607A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ile2203Val",
        "hgvsWellDefined": "NP_001341833.1:p.Ile2203Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828011179",
      "coordinates": [
        {
          "allele": "G",
          "end": 6614,
          "referenceAllele": "A",
          "start": 6613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.6505A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ile2169Val",
        "hgvsWellDefined": "NP_001341834.1:p.Ile2169Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828027312",
      "coordinates": [
        {
          "allele": "G",
          "end": 7256,
          "referenceAllele": "A",
          "start": 7255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.6136A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ile2046Val",
        "hgvsWellDefined": "NP_001341835.1:p.Ile2046Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA211338",
      "coordinates": [
        {
          "allele": "G",
          "end": 7044,
          "referenceAllele": "A",
          "start": 7043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.6985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ile2329Val",
        "hgvsWellDefined": "NP_000029.2:p.Ile2329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.6985A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.6985A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ile2329Val"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ile2329Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA211339",
      "coordinates": [
        {
          "allele": "G",
          "end": 7152,
          "referenceAllele": "A",
          "start": 7151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.6985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ile2329Val",
        "hgvsWellDefined": "NP_001120982.1:p.Ile2329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA211337",
      "coordinates": [
        {
          "allele": "G",
          "end": 7151,
          "referenceAllele": "A",
          "start": 7150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.6931A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ile2311Val",
        "hgvsWellDefined": "NP_001120983.2:p.Ile2311Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827946973",
      "coordinates": [
        {
          "allele": "G",
          "end": 7388,
          "referenceAllele": "A",
          "start": 7387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.6985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ile2329Val",
        "hgvsWellDefined": "NP_001341824.1:p.Ile2329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916041262",
      "coordinates": [
        {
          "allele": "G",
          "end": 7098,
          "referenceAllele": "A",
          "start": 7097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.7039A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ile2347Val",
        "hgvsWellDefined": "NP_001341825.1:p.Ile2347Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827961662",
      "coordinates": [
        {
          "allele": "G",
          "end": 7235,
          "referenceAllele": "A",
          "start": 7234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.7015A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ile2339Val",
        "hgvsWellDefined": "NP_001341826.1:p.Ile2339Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827970799",
      "coordinates": [
        {
          "allele": "G",
          "end": 6999,
          "referenceAllele": "A",
          "start": 6998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.6910A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ile2304Val",
        "hgvsWellDefined": "NP_001341827.1:p.Ile2304Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827979972",
      "coordinates": [
        {
          "allele": "G",
          "end": 6960,
          "referenceAllele": "A",
          "start": 6959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.6901A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ile2301Val",
        "hgvsWellDefined": "NP_001341828.1:p.Ile2301Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827989050",
      "coordinates": [
        {
          "allele": "G",
          "end": 6945,
          "referenceAllele": "A",
          "start": 6944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.6862A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ile2288Val",
        "hgvsWellDefined": "NP_001341829.1:p.Ile2288Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827998115",
      "coordinates": [
        {
          "allele": "G",
          "end": 6891,
          "referenceAllele": "A",
          "start": 6890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.6808A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ile2270Val",
        "hgvsWellDefined": "NP_001341830.1:p.Ile2270Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828003869",
      "coordinates": [
        {
          "allele": "G",
          "end": 6932,
          "referenceAllele": "A",
          "start": 6931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.6712A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ile2238Val",
        "hgvsWellDefined": "NP_001341831.1:p.Ile2238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828027528",
      "coordinates": [
        {
          "allele": "G",
          "end": 6741,
          "referenceAllele": "A",
          "start": 6740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.6682A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ile2228Val",
        "hgvsWellDefined": "NP_001341832.1:p.Ile2228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828046720",
      "coordinates": [
        {
          "allele": "G",
          "end": 6696,
          "referenceAllele": "A",
          "start": 6695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.6607A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ile2203Val",
        "hgvsWellDefined": "NP_001341833.1:p.Ile2203Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828011179",
      "coordinates": [
        {
          "allele": "G",
          "end": 6588,
          "referenceAllele": "A",
          "start": 6587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.6505A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ile2169Val",
        "hgvsWellDefined": "NP_001341834.1:p.Ile2169Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828027312",
      "coordinates": [
        {
          "allele": "G",
          "end": 7230,
          "referenceAllele": "A",
          "start": 7229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.6136A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ile2046Val",
        "hgvsWellDefined": "NP_001341835.1:p.Ile2046Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}