{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA012407",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.6694C>G (p.His2232Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180220[alleleid]",
        "alleleId": 180220,
        "preferredName": "NM_000038.6(APC):c.6694C>G (p.His2232Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/181815",
        "RCV": [
          "RCV000204441",
          "RCV000216441",
          "RCV000656749",
          "RCV003998419",
          "RCV003650407"
        ],
        "variationId": 181815
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112177985-C-G",
        "id": "5-112177985-C-G",
        "variant": "5:112177985 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112177985C>G?assembly=hg19",
        "id": "chr5:g.112177985C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112842288C>G?assembly=hg38",
        "id": "chr5:g.112842288C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730881256",
        "rs": 730881256
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112177985-C-G?dataset=gnomad_r2_1",
        "id": "5-112177985-C-G",
        "variant": "5:112177985 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112842288-C-G?dataset=gnomad_r3",
        "id": "5-112842288-C-G",
        "variant": "5:112842288 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112842288-C-G?dataset=gnomad_r4",
        "id": "5-112842288-C-G",
        "variant": "5:112842288 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112842288,
          "referenceAllele": "C",
          "start": 112842287
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112842288C>G",
        "CM000667.2:g.112842288C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112177985,
          "referenceAllele": "C",
          "start": 112177984
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112177985C>G",
        "CM000667.1:g.112177985C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112205884,
          "referenceAllele": "C",
          "start": 112205883
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112205884C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154768,
          "referenceAllele": "C",
          "start": 154767
        }
      ],
      "hgvs": [
        "NG_008481.4:g.154768C>G",
        "LRG_130:g.154768C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6804,
          "referenceAllele": "C",
          "start": 6803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.6748C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.His2250Asp",
        "hgvsWellDefined": "ENSP00000473355.2:p.His2250Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7074,
          "referenceAllele": "C",
          "start": 7073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*6700C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*6700C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6836,
          "referenceAllele": "C",
          "start": 6835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.6640C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.His2214Asp",
        "hgvsWellDefined": "ENSP00000423224.2:p.His2214Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6844,
          "referenceAllele": "C",
          "start": 6843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.6694C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.His2232Asp",
        "hgvsWellDefined": "ENSP00000426541.2:p.His2232Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7045,
          "referenceAllele": "C",
          "start": 7044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.6694C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.His2232Asp",
        "hgvsWellDefined": "ENSP00000423828.3:p.His2232Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6753,
          "referenceAllele": "C",
          "start": 6752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.6694C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.His2232Asp",
        "hgvsWellDefined": "ENSP00000257430.4:p.His2232Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.6694C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.6694C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.His2232Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.His2232Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6750,
          "referenceAllele": "C",
          "start": 6749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.6694C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.His2232Asp",
        "hgvsWellDefined": "ENSP00000257430.4:p.His2232Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6851,
          "referenceAllele": "C",
          "start": 6850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.6694C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.His2232Asp",
        "hgvsWellDefined": "ENSP00000427089.2:p.His2232Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6939,
          "referenceAllele": "C",
          "start": 6938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*6016C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*6016C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 13316,
          "referenceAllele": "C",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 13315
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.230+13316C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA297886",
      "coordinates": [
        {
          "allele": "G",
          "end": 6779,
          "referenceAllele": "C",
          "start": 6778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.6694C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.His2232Asp",
        "hgvsWellDefined": "NP_000029.2:p.His2232Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA297887",
      "coordinates": [
        {
          "allele": "G",
          "end": 6887,
          "referenceAllele": "C",
          "start": 6886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.6694C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.His2232Asp",
        "hgvsWellDefined": "NP_001120982.1:p.His2232Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA297885",
      "coordinates": [
        {
          "allele": "G",
          "end": 6853,
          "referenceAllele": "C",
          "start": 6852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.6640C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.His2214Asp",
        "hgvsWellDefined": "NP_001120983.2:p.His2214Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827946632",
      "coordinates": [
        {
          "allele": "G",
          "end": 7090,
          "referenceAllele": "C",
          "start": 7089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.6694C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.His2232Asp",
        "hgvsWellDefined": "NP_001341824.1:p.His2232Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916041133",
      "coordinates": [
        {
          "allele": "G",
          "end": 6833,
          "referenceAllele": "C",
          "start": 6832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.6748C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.His2250Asp",
        "hgvsWellDefined": "NP_001341825.1:p.His2250Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827961320",
      "coordinates": [
        {
          "allele": "G",
          "end": 6937,
          "referenceAllele": "C",
          "start": 6936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.6724C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.His2242Asp",
        "hgvsWellDefined": "NP_001341826.1:p.His2242Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827970458",
      "coordinates": [
        {
          "allele": "G",
          "end": 6734,
          "referenceAllele": "C",
          "start": 6733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.6619C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.His2207Asp",
        "hgvsWellDefined": "NP_001341827.1:p.His2207Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827979631",
      "coordinates": [
        {
          "allele": "G",
          "end": 6695,
          "referenceAllele": "C",
          "start": 6694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.6610C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.His2204Asp",
        "hgvsWellDefined": "NP_001341828.1:p.His2204Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827988709",
      "coordinates": [
        {
          "allele": "G",
          "end": 6680,
          "referenceAllele": "C",
          "start": 6679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.6571C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.His2191Asp",
        "hgvsWellDefined": "NP_001341829.1:p.His2191Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827997773",
      "coordinates": [
        {
          "allele": "G",
          "end": 6626,
          "referenceAllele": "C",
          "start": 6625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.6517C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.His2173Asp",
        "hgvsWellDefined": "NP_001341830.1:p.His2173Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828003728",
      "coordinates": [
        {
          "allele": "G",
          "end": 6634,
          "referenceAllele": "C",
          "start": 6633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.6421C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.His2141Asp",
        "hgvsWellDefined": "NP_001341831.1:p.His2141Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828026853",
      "coordinates": [
        {
          "allele": "G",
          "end": 6476,
          "referenceAllele": "C",
          "start": 6475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.6391C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.His2131Asp",
        "hgvsWellDefined": "NP_001341832.1:p.His2131Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828046139",
      "coordinates": [
        {
          "allele": "G",
          "end": 6431,
          "referenceAllele": "C",
          "start": 6430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.6316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.His2106Asp",
        "hgvsWellDefined": "NP_001341833.1:p.His2106Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828010559",
      "coordinates": [
        {
          "allele": "G",
          "end": 6323,
          "referenceAllele": "C",
          "start": 6322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.6214C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.His2072Asp",
        "hgvsWellDefined": "NP_001341834.1:p.His2072Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828026630",
      "coordinates": [
        {
          "allele": "G",
          "end": 6965,
          "referenceAllele": "C",
          "start": 6964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.5845C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.His1949Asp",
        "hgvsWellDefined": "NP_001341835.1:p.His1949Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA297886",
      "coordinates": [
        {
          "allele": "G",
          "end": 6753,
          "referenceAllele": "C",
          "start": 6752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.6694C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.His2232Asp",
        "hgvsWellDefined": "NP_000029.2:p.His2232Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.6694C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.6694C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.His2232Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.His2232Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA297887",
      "coordinates": [
        {
          "allele": "G",
          "end": 6861,
          "referenceAllele": "C",
          "start": 6860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.6694C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.His2232Asp",
        "hgvsWellDefined": "NP_001120982.1:p.His2232Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA297885",
      "coordinates": [
        {
          "allele": "G",
          "end": 6860,
          "referenceAllele": "C",
          "start": 6859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.6640C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.His2214Asp",
        "hgvsWellDefined": "NP_001120983.2:p.His2214Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827946632",
      "coordinates": [
        {
          "allele": "G",
          "end": 7097,
          "referenceAllele": "C",
          "start": 7096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.6694C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.His2232Asp",
        "hgvsWellDefined": "NP_001341824.1:p.His2232Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916041133",
      "coordinates": [
        {
          "allele": "G",
          "end": 6807,
          "referenceAllele": "C",
          "start": 6806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.6748C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.His2250Asp",
        "hgvsWellDefined": "NP_001341825.1:p.His2250Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827961320",
      "coordinates": [
        {
          "allele": "G",
          "end": 6944,
          "referenceAllele": "C",
          "start": 6943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.6724C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.His2242Asp",
        "hgvsWellDefined": "NP_001341826.1:p.His2242Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827970458",
      "coordinates": [
        {
          "allele": "G",
          "end": 6708,
          "referenceAllele": "C",
          "start": 6707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.6619C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.His2207Asp",
        "hgvsWellDefined": "NP_001341827.1:p.His2207Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827979631",
      "coordinates": [
        {
          "allele": "G",
          "end": 6669,
          "referenceAllele": "C",
          "start": 6668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.6610C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.His2204Asp",
        "hgvsWellDefined": "NP_001341828.1:p.His2204Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827988709",
      "coordinates": [
        {
          "allele": "G",
          "end": 6654,
          "referenceAllele": "C",
          "start": 6653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.6571C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.His2191Asp",
        "hgvsWellDefined": "NP_001341829.1:p.His2191Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827997773",
      "coordinates": [
        {
          "allele": "G",
          "end": 6600,
          "referenceAllele": "C",
          "start": 6599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.6517C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.His2173Asp",
        "hgvsWellDefined": "NP_001341830.1:p.His2173Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828003728",
      "coordinates": [
        {
          "allele": "G",
          "end": 6641,
          "referenceAllele": "C",
          "start": 6640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.6421C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.His2141Asp",
        "hgvsWellDefined": "NP_001341831.1:p.His2141Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828026853",
      "coordinates": [
        {
          "allele": "G",
          "end": 6450,
          "referenceAllele": "C",
          "start": 6449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.6391C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.His2131Asp",
        "hgvsWellDefined": "NP_001341832.1:p.His2131Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828046139",
      "coordinates": [
        {
          "allele": "G",
          "end": 6405,
          "referenceAllele": "C",
          "start": 6404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.6316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.His2106Asp",
        "hgvsWellDefined": "NP_001341833.1:p.His2106Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828010559",
      "coordinates": [
        {
          "allele": "G",
          "end": 6297,
          "referenceAllele": "C",
          "start": 6296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.6214C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.His2072Asp",
        "hgvsWellDefined": "NP_001341834.1:p.His2072Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828026630",
      "coordinates": [
        {
          "allele": "G",
          "end": 6939,
          "referenceAllele": "C",
          "start": 6938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.5845C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.His1949Asp",
        "hgvsWellDefined": "NP_001341835.1:p.His1949Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}