{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279721",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.487C>T (p.Gln163Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214662[alleleid]",
        "alleleId": 214662,
        "preferredName": "NM_000038.6(APC):c.487C>T (p.Gln163Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217991",
        "RCV": [
          "RCV000202083",
          "RCV000500940",
          "RCV001023190",
          "RCV002517332",
          "RCV003650457"
        ],
        "variationId": 217991
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112111390C>T?assembly=hg19",
        "id": "chr5:g.112111390C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112775693C>T?assembly=hg38",
        "id": "chr5:g.112775693C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225362",
        "rs": 863225362
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112775693-C-T?dataset=gnomad_r4",
        "id": "5-112775693-C-T",
        "variant": "5:112775693 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112775693,
          "referenceAllele": "C",
          "start": 112775692
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112775693C>T",
        "CM000667.2:g.112775693C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112111390,
          "referenceAllele": "C",
          "start": 112111389
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112111390C>T",
        "CM000667.1:g.112111390C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112139289,
          "referenceAllele": "C",
          "start": 112139288
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112139289C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88173,
          "referenceAllele": "C",
          "start": 88172
        }
      ],
      "hgvs": [
        "NG_008481.4:g.88173C>T",
        "LRG_130:g.88173C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:p.Gln163Ter",
        "hgvsWellDefined": "ENSP00000484935.2:p.Gln163_His488delinsAsnLeuThrLysArgIleAspSerLeuProLeuThrGluAsnPheSerLeuGlnThrAspMetThrArgArgGlnLeuGluTyrGluAlaArgGlnIleArgValAlaMetGluGluGlnLeuGlyThrCysGlnAspMetGluLysArgAlaGlnArgArgIleAlaArgIleGlnGlnIleGluLysAspIleLeuArgIleArgGlnLeuLeuGlnSerGlnAlaThrGluAlaGluArgSerSerGlnAsnLysHisGluThrGlySerHisAspAlaGluArgGlnAsnGluGlyGlnGlyValGlyGluIleAsnMetAlaThrSerGlyAsnGlyGlnGlySerThrThrArgMetAspHisGluThrAlaSerValLeuSerSerSerSerThrHisSerAlaProArgArgLeuThrSerHisLeuGlyThrLysValGluMetValTyrSerLeuLeuSerMetLeuGlyThrHisAspLysAspAspMetSerArgThrLeuLeuAlaMetSerSerSerGlnAspSerCysIleSerMetArgGlnSerGlyCysLeuProLeuLeuIleGlnLeuLeuHisGlyAsnAspLysAspSerValLeuLeuGlyAsnSerArgGlySerLysGluAlaArgAlaArgAlaSerAlaAlaLeuHisAsnIleIleHisSerGlnProAspAspLysArgGlyArgArgGluIleArgValLeuHisLeuLeuGluGlnIleArgAlaTyrCysGluThrCysTrpGluTrpGlnGluAlaHisGluProGlyMetAspGlnAspLysAsnProMetProAlaProValGluHisGlnIleCysProAlaValCysValLeuMetLysLeuSerPheAspGluGluHisArgHisAlaMetAsnGluLeuGlyIleAsnProGlnLysArgIleGluCysLeuMetGluPheValSerThrLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505084.2:n.543C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*493C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*493C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Gln173Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.487C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.487C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Gln163Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Gln163Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:p.Gln173Ter",
        "hgvsWellDefined": "ENSP00000423224.1:p.Gln173Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:p.Gln163Ter",
        "hgvsWellDefined": "ENSP00000424265.1:p.Gln163_Cys287delinsAsnLeuThrLysArgIleAspSerLeuProLeuThrGluAsnPheSerLeuGlnThrAspMetThrArgArgGlnLeuGluTyrGluAlaArgGlnIleArgValAlaMetGluGluGlnLeuGlyThrCysGlnAspMetGluLysArgAlaGlnArgArgIleAlaArgIleGlnGlnIleGluLysAspIleLeuArgIleArgGlnLeuLeuGlnSerGlnAlaThrGluAlaGluArgSerSerGlnAsnLysHisGluThrGlySerHisAspAlaGluArgGlnAsnGluGlyGlnGlyValGlyGluIleAsnMetAlaThrSerGlyAsnGlyGlnIleGluLysMetArgMetPheGluCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "C",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 730,
          "referenceAllele": "C",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Gln173Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 730,
          "referenceAllele": "C",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Gln173Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.412C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Gln138Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419,
          "referenceAllele": "C",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.310C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Gln104Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419,
          "referenceAllele": "C",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.310C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Gln104Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 730,
          "referenceAllele": "C",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Gln173Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.412C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Gln138Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419,
          "referenceAllele": "C",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.310C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Gln104Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.-549C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:n.-549C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.487C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.487C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Gln163Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Gln163Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "C",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Gln173Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "C",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Gln173Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "C",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.412C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Gln138Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "referenceAllele": "C",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.310C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Gln104Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "referenceAllele": "C",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.310C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Gln104Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Gln173Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Gln163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "C",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.412C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Gln138Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "referenceAllele": "C",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.310C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Gln104Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.-549C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:n.-549C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}