{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279753",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.3810T>A (p.Cys1270Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=290422",
        "active": true,
        "id": "COSM290422"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214718[alleleid]",
        "alleleId": 214718,
        "preferredName": "NM_000038.6(APC):c.3810T>A (p.Cys1270Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217972",
        "RCV": [
          "RCV000202149",
          "RCV000490989",
          "RCV002298521",
          "RCV003337247",
          "RCV003982949"
        ],
        "variationId": 217972
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112175101T>A?assembly=hg19",
        "id": "chr5:g.112175101T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112839404T>A?assembly=hg38",
        "id": "chr5:g.112839404T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225347",
        "rs": 863225347
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112839404,
          "referenceAllele": "T",
          "start": 112839403
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112839404T>A",
        "CM000667.2:g.112839404T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112175101,
          "referenceAllele": "T",
          "start": 112175100
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112175101T>A",
        "CM000667.1:g.112175101T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112203000,
          "referenceAllele": "T",
          "start": 112202999
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112203000T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 151884,
          "referenceAllele": "T",
          "start": 151883
        }
      ],
      "hgvs": [
        "NG_008481.4:g.151884T>A",
        "LRG_130:g.151884T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3475,
          "referenceAllele": "T",
          "start": 3474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.3475T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:n.3475T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3920,
          "referenceAllele": "T",
          "start": 3919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.3864T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Cys1288Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4190,
          "referenceAllele": "T",
          "start": 4189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*3816T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*3816T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3952,
          "referenceAllele": "T",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.3756T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Cys1252Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3960,
          "referenceAllele": "T",
          "start": 3959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.3810T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Cys1270Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4161,
          "referenceAllele": "T",
          "start": 4160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.3810T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Cys1270Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3869,
          "referenceAllele": "T",
          "start": 3868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.3810T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Cys1270Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.3810T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.3810T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Cys1270Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Cys1270Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3866,
          "referenceAllele": "T",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.3810T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Cys1270Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2163,
          "referenceAllele": "T",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.2:c.2163T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3967,
          "referenceAllele": "T",
          "start": 3966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.3810T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Cys1270Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4055,
          "referenceAllele": "T",
          "start": 4054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*3132T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*3132T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3957,
          "referenceAllele": "T",
          "start": 3956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.3810T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.Cys1270Ter",
        "hgvsWellDefined": "ENSP00000423828.2:p.Cys1270_Ala1305del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 10432,
          "referenceAllele": "T",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 10431
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.230+10432T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3895,
          "referenceAllele": "T",
          "start": 3894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.3810T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Cys1270Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4003,
          "referenceAllele": "T",
          "start": 4002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.3810T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Cys1270Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3969,
          "referenceAllele": "T",
          "start": 3968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.3756T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Cys1252Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4206,
          "referenceAllele": "T",
          "start": 4205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.3810T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Cys1270Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3949,
          "referenceAllele": "T",
          "start": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.3864T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Cys1288Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4053,
          "referenceAllele": "T",
          "start": 4052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.3840T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Cys1280Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3850,
          "referenceAllele": "T",
          "start": 3849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.3735T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Cys1245Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3811,
          "referenceAllele": "T",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.3726T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Cys1242Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3796,
          "referenceAllele": "T",
          "start": 3795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.3687T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Cys1229Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3742,
          "referenceAllele": "T",
          "start": 3741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.3633T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Cys1211Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3750,
          "referenceAllele": "T",
          "start": 3749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.3537T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Cys1179Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3592,
          "referenceAllele": "T",
          "start": 3591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.3507T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Cys1169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3547,
          "referenceAllele": "T",
          "start": 3546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.3432T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Cys1144Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3439,
          "referenceAllele": "T",
          "start": 3438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.3330T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Cys1110Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4081,
          "referenceAllele": "T",
          "start": 4080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.2961T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Cys987Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3869,
          "referenceAllele": "T",
          "start": 3868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.3810T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Cys1270Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.3810T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.3810T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Cys1270Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Cys1270Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3977,
          "referenceAllele": "T",
          "start": 3976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.3810T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Cys1270Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3976,
          "referenceAllele": "T",
          "start": 3975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.3756T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Cys1252Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4213,
          "referenceAllele": "T",
          "start": 4212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.3810T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Cys1270Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3923,
          "referenceAllele": "T",
          "start": 3922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.3864T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Cys1288Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4060,
          "referenceAllele": "T",
          "start": 4059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.3840T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Cys1280Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3824,
          "referenceAllele": "T",
          "start": 3823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.3735T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Cys1245Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3785,
          "referenceAllele": "T",
          "start": 3784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.3726T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Cys1242Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3770,
          "referenceAllele": "T",
          "start": 3769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.3687T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Cys1229Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3716,
          "referenceAllele": "T",
          "start": 3715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.3633T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Cys1211Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3757,
          "referenceAllele": "T",
          "start": 3756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.3537T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Cys1179Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3566,
          "referenceAllele": "T",
          "start": 3565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.3507T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Cys1169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3521,
          "referenceAllele": "T",
          "start": 3520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.3432T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Cys1144Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3413,
          "referenceAllele": "T",
          "start": 3412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.3330T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Cys1110Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4055,
          "referenceAllele": "T",
          "start": 4054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.2961T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Cys987Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}