{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10578333",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.1999C>T (p.Gln667Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=288184",
        "active": true,
        "id": "COSM288184"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=233049[alleleid]",
        "alleleId": 233049,
        "preferredName": "NM_000038.6(APC):c.1999C>T (p.Gln667Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/233010",
        "RCV": [
          "RCV000213199",
          "RCV002229299",
          "RCV003765431"
        ],
        "variationId": 233010
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112173290C>T?assembly=hg19",
        "id": "chr5:g.112173290C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112837593C>T?assembly=hg38",
        "id": "chr5:g.112837593C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876660130",
        "rs": 876660130
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112837593,
          "referenceAllele": "C",
          "start": 112837592
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112837593C>T",
        "CM000667.2:g.112837593C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112173290,
          "referenceAllele": "C",
          "start": 112173289
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112173290C>T",
        "CM000667.1:g.112173290C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112201189,
          "referenceAllele": "C",
          "start": 112201188
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112201189C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150073,
          "referenceAllele": "C",
          "start": 150072
        }
      ],
      "hgvs": [
        "NG_008481.4:g.150073C>T",
        "LRG_130:g.150073C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1664,
          "referenceAllele": "C",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:n.1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2109,
          "referenceAllele": "C",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.2053C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Gln685Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2379,
          "referenceAllele": "C",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*2005C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*2005C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "C",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.1945C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Gln649Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2149,
          "referenceAllele": "C",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Gln667Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2350,
          "referenceAllele": "C",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Gln667Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2058,
          "referenceAllele": "C",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Gln667Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.1999C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.1999C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Gln667Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Gln667Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2055,
          "referenceAllele": "C",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Gln667Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.2:c.352C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 688,
          "referenceAllele": "C",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.2:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.1:p.Gln230Ter",
        "hgvsWellDefined": "ENSP00000473355.1:p.Gln230Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "C",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.1945C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:p.Gln649Ter",
        "hgvsWellDefined": "ENSP00000423224.1:p.Gln649Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2156,
          "referenceAllele": "C",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Gln667Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2244,
          "referenceAllele": "C",
          "start": 2243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*1321C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*1321C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2146,
          "referenceAllele": "C",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.Gln667Ter",
        "hgvsWellDefined": "ENSP00000423828.2:p.Gln667_Ala1305del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 8621,
          "referenceAllele": "C",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 8620
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.230+8621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2084,
          "referenceAllele": "C",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Gln667Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2192,
          "referenceAllele": "C",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Gln667Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2158,
          "referenceAllele": "C",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.1945C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Gln649Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2395,
          "referenceAllele": "C",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Gln667Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.2053C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Gln685Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2242,
          "referenceAllele": "C",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.2029C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Gln677Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2039,
          "referenceAllele": "C",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.1924C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Gln642Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2000,
          "referenceAllele": "C",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.1915C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Gln639Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1985,
          "referenceAllele": "C",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.1876C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Gln626Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1931,
          "referenceAllele": "C",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.1822C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Gln608Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1939,
          "referenceAllele": "C",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.1726C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Gln576Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1781,
          "referenceAllele": "C",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Gln566Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "referenceAllele": "C",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.1621C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Gln541Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1628,
          "referenceAllele": "C",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.1519C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Gln507Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2270,
          "referenceAllele": "C",
          "start": 2269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.1150C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Gln384Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2058,
          "referenceAllele": "C",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Gln667Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.1999C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.1999C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Gln667Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Gln667Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2166,
          "referenceAllele": "C",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Gln667Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2165,
          "referenceAllele": "C",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.1945C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Gln649Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2402,
          "referenceAllele": "C",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Gln667Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2112,
          "referenceAllele": "C",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.2053C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Gln685Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2249,
          "referenceAllele": "C",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.2029C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Gln677Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2013,
          "referenceAllele": "C",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.1924C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Gln642Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1974,
          "referenceAllele": "C",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.1915C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Gln639Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1959,
          "referenceAllele": "C",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.1876C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Gln626Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.1822C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Gln608Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.1726C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Gln576Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1755,
          "referenceAllele": "C",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Gln566Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1710,
          "referenceAllele": "C",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.1621C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Gln541Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.1519C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Gln507Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2244,
          "referenceAllele": "C",
          "start": 2243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.1150C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Gln384Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}