{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA013990",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.7717A>G (p.Ile2573Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1186809",
        "active": true,
        "id": "COSM1186809"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49975[alleleid]",
        "alleleId": 49975,
        "preferredName": "NM_000038.6(APC):c.7717A>G (p.Ile2573Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41536",
        "RCV": [
          "RCV000034421",
          "RCV000122803",
          "RCV000148373",
          "RCV000163980",
          "RCV000236063",
          "RCV003650359"
        ],
        "variationId": 41536
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112179008-A-G",
        "id": "5-112179008-A-G",
        "variant": "5:112179008 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112179008A>G?assembly=hg19",
        "id": "chr5:g.112179008A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112843311A>G?assembly=hg38",
        "id": "chr5:g.112843311A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145444830",
        "rs": 145444830
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112179008-A-G?dataset=gnomad_r2_1",
        "id": "5-112179008-A-G",
        "variant": "5:112179008 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112843311-A-G?dataset=gnomad_r3",
        "id": "5-112843311-A-G",
        "variant": "5:112843311 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112843311-A-G?dataset=gnomad_r4",
        "id": "5-112843311-A-G",
        "variant": "5:112843311 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112843311,
          "referenceAllele": "A",
          "start": 112843310
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112843311A>G",
        "CM000667.2:g.112843311A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112179008,
          "referenceAllele": "A",
          "start": 112179007
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112179008A>G",
        "CM000667.1:g.112179008A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112206907,
          "referenceAllele": "A",
          "start": 112206906
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112206907A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155791,
          "referenceAllele": "A",
          "start": 155790
        }
      ],
      "hgvs": [
        "NG_008481.4:g.155791A>G",
        "LRG_130:g.155791A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7827,
          "referenceAllele": "A",
          "start": 7826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.7771A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Ile2591Val",
        "hgvsWellDefined": "ENSP00000473355.2:p.Ile2591Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8097,
          "referenceAllele": "A",
          "start": 8096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*7723A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*7723A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7859,
          "referenceAllele": "A",
          "start": 7858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.7663A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Ile2555Val",
        "hgvsWellDefined": "ENSP00000423224.2:p.Ile2555Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7867,
          "referenceAllele": "A",
          "start": 7866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.7717A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Ile2573Val",
        "hgvsWellDefined": "ENSP00000426541.2:p.Ile2573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8068,
          "referenceAllele": "A",
          "start": 8067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.7717A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Ile2573Val",
        "hgvsWellDefined": "ENSP00000423828.3:p.Ile2573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7776,
          "referenceAllele": "A",
          "start": 7775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.7717A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ile2573Val",
        "hgvsWellDefined": "ENSP00000257430.4:p.Ile2573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.7717A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.7717A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ile2573Val"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ile2573Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7773,
          "referenceAllele": "A",
          "start": 7772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.7717A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ile2573Val",
        "hgvsWellDefined": "ENSP00000257430.4:p.Ile2573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7874,
          "referenceAllele": "A",
          "start": 7873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.7717A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Ile2573Val",
        "hgvsWellDefined": "ENSP00000427089.2:p.Ile2573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "endIntronDirection": "-",
          "endIntronOffset": 13337,
          "referenceAllele": "A",
          "start": 230,
          "startIntronDirection": "-",
          "startIntronOffset": 13338
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.231-13338A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA189697",
      "coordinates": [
        {
          "allele": "G",
          "end": 7802,
          "referenceAllele": "A",
          "start": 7801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.7717A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ile2573Val",
        "hgvsWellDefined": "NP_000029.2:p.Ile2573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA189698",
      "coordinates": [
        {
          "allele": "G",
          "end": 7910,
          "referenceAllele": "A",
          "start": 7909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.7717A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ile2573Val",
        "hgvsWellDefined": "NP_001120982.1:p.Ile2573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA189696",
      "coordinates": [
        {
          "allele": "G",
          "end": 7876,
          "referenceAllele": "A",
          "start": 7875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.7663A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ile2555Val",
        "hgvsWellDefined": "NP_001120983.2:p.Ile2555Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827947768",
      "coordinates": [
        {
          "allele": "G",
          "end": 8113,
          "referenceAllele": "A",
          "start": 8112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.7717A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ile2573Val",
        "hgvsWellDefined": "NP_001341824.1:p.Ile2573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916041545",
      "coordinates": [
        {
          "allele": "G",
          "end": 7856,
          "referenceAllele": "A",
          "start": 7855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.7771A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ile2591Val",
        "hgvsWellDefined": "NP_001341825.1:p.Ile2591Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827962455",
      "coordinates": [
        {
          "allele": "G",
          "end": 7960,
          "referenceAllele": "A",
          "start": 7959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.7747A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ile2583Val",
        "hgvsWellDefined": "NP_001341826.1:p.Ile2583Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827971593",
      "coordinates": [
        {
          "allele": "G",
          "end": 7757,
          "referenceAllele": "A",
          "start": 7756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.7642A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ile2548Val",
        "hgvsWellDefined": "NP_001341827.1:p.Ile2548Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827980767",
      "coordinates": [
        {
          "allele": "G",
          "end": 7718,
          "referenceAllele": "A",
          "start": 7717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.7633A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ile2545Val",
        "hgvsWellDefined": "NP_001341828.1:p.Ile2545Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827989846",
      "coordinates": [
        {
          "allele": "G",
          "end": 7703,
          "referenceAllele": "A",
          "start": 7702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.7594A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ile2532Val",
        "hgvsWellDefined": "NP_001341829.1:p.Ile2532Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827998909",
      "coordinates": [
        {
          "allele": "G",
          "end": 7649,
          "referenceAllele": "A",
          "start": 7648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.7540A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ile2514Val",
        "hgvsWellDefined": "NP_001341830.1:p.Ile2514Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828004226",
      "coordinates": [
        {
          "allele": "G",
          "end": 7657,
          "referenceAllele": "A",
          "start": 7656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.7444A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ile2482Val",
        "hgvsWellDefined": "NP_001341831.1:p.Ile2482Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828029092",
      "coordinates": [
        {
          "allele": "G",
          "end": 7499,
          "referenceAllele": "A",
          "start": 7498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.7414A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ile2472Val",
        "hgvsWellDefined": "NP_001341832.1:p.Ile2472Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828048436",
      "coordinates": [
        {
          "allele": "G",
          "end": 7454,
          "referenceAllele": "A",
          "start": 7453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.7339A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ile2447Val",
        "hgvsWellDefined": "NP_001341833.1:p.Ile2447Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828012791",
      "coordinates": [
        {
          "allele": "G",
          "end": 7346,
          "referenceAllele": "A",
          "start": 7345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.7237A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ile2413Val",
        "hgvsWellDefined": "NP_001341834.1:p.Ile2413Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828028952",
      "coordinates": [
        {
          "allele": "G",
          "end": 7988,
          "referenceAllele": "A",
          "start": 7987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.6868A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ile2290Val",
        "hgvsWellDefined": "NP_001341835.1:p.Ile2290Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA189697",
      "coordinates": [
        {
          "allele": "G",
          "end": 7776,
          "referenceAllele": "A",
          "start": 7775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.7717A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ile2573Val",
        "hgvsWellDefined": "NP_000029.2:p.Ile2573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.7717A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.7717A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ile2573Val"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ile2573Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA189698",
      "coordinates": [
        {
          "allele": "G",
          "end": 7884,
          "referenceAllele": "A",
          "start": 7883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.7717A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ile2573Val",
        "hgvsWellDefined": "NP_001120982.1:p.Ile2573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA189696",
      "coordinates": [
        {
          "allele": "G",
          "end": 7883,
          "referenceAllele": "A",
          "start": 7882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.7663A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ile2555Val",
        "hgvsWellDefined": "NP_001120983.2:p.Ile2555Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827947768",
      "coordinates": [
        {
          "allele": "G",
          "end": 8120,
          "referenceAllele": "A",
          "start": 8119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.7717A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ile2573Val",
        "hgvsWellDefined": "NP_001341824.1:p.Ile2573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916041545",
      "coordinates": [
        {
          "allele": "G",
          "end": 7830,
          "referenceAllele": "A",
          "start": 7829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.7771A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ile2591Val",
        "hgvsWellDefined": "NP_001341825.1:p.Ile2591Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827962455",
      "coordinates": [
        {
          "allele": "G",
          "end": 7967,
          "referenceAllele": "A",
          "start": 7966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.7747A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ile2583Val",
        "hgvsWellDefined": "NP_001341826.1:p.Ile2583Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827971593",
      "coordinates": [
        {
          "allele": "G",
          "end": 7731,
          "referenceAllele": "A",
          "start": 7730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.7642A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ile2548Val",
        "hgvsWellDefined": "NP_001341827.1:p.Ile2548Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827980767",
      "coordinates": [
        {
          "allele": "G",
          "end": 7692,
          "referenceAllele": "A",
          "start": 7691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.7633A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ile2545Val",
        "hgvsWellDefined": "NP_001341828.1:p.Ile2545Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827989846",
      "coordinates": [
        {
          "allele": "G",
          "end": 7677,
          "referenceAllele": "A",
          "start": 7676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.7594A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ile2532Val",
        "hgvsWellDefined": "NP_001341829.1:p.Ile2532Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827998909",
      "coordinates": [
        {
          "allele": "G",
          "end": 7623,
          "referenceAllele": "A",
          "start": 7622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.7540A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ile2514Val",
        "hgvsWellDefined": "NP_001341830.1:p.Ile2514Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828004226",
      "coordinates": [
        {
          "allele": "G",
          "end": 7664,
          "referenceAllele": "A",
          "start": 7663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.7444A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ile2482Val",
        "hgvsWellDefined": "NP_001341831.1:p.Ile2482Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828029092",
      "coordinates": [
        {
          "allele": "G",
          "end": 7473,
          "referenceAllele": "A",
          "start": 7472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.7414A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ile2472Val",
        "hgvsWellDefined": "NP_001341832.1:p.Ile2472Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828048436",
      "coordinates": [
        {
          "allele": "G",
          "end": 7428,
          "referenceAllele": "A",
          "start": 7427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.7339A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ile2447Val",
        "hgvsWellDefined": "NP_001341833.1:p.Ile2447Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828012791",
      "coordinates": [
        {
          "allele": "G",
          "end": 7320,
          "referenceAllele": "A",
          "start": 7319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.7237A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ile2413Val",
        "hgvsWellDefined": "NP_001341834.1:p.Ile2413Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828028952",
      "coordinates": [
        {
          "allele": "G",
          "end": 7962,
          "referenceAllele": "A",
          "start": 7961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.6868A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ile2290Val",
        "hgvsWellDefined": "NP_001341835.1:p.Ile2290Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}