{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2499217473",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.3470dup (p.Arg1158GlufsTer6)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1037574[alleleid]",
        "alleleId": 1037574,
        "preferredName": "NM_000038.6(APC):c.3470dup (p.Arg1158fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048908",
        "RCV": [
          "RCV001354325",
          "RCV002460147"
        ],
        "variationId": 1048908
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2149892641",
        "rs": 2149892641
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112839064,
          "referenceAllele": "",
          "start": 112839064
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112839064dup",
        "CM000667.2:g.112839064dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112174761,
          "referenceAllele": "",
          "start": 112174761
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112174761dup",
        "CM000667.1:g.112174761dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112202660,
          "referenceAllele": "",
          "start": 112202660
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112202660dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 151544,
          "referenceAllele": "",
          "start": 151544
        }
      ],
      "hgvs": [
        "NG_008481.4:g.151544dup",
        "LRG_130:g.151544dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3135,
          "referenceAllele": "",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.3135dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:n.3135dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3580,
          "referenceAllele": "",
          "start": 3580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.3524dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Arg1176GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3850,
          "referenceAllele": "",
          "start": 3850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*3476dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*3476dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3612,
          "referenceAllele": "",
          "start": 3612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.3416dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Arg1140GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3620,
          "referenceAllele": "",
          "start": 3620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.3470dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Arg1158GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3821,
          "referenceAllele": "",
          "start": 3821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.3470dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Arg1158GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3529,
          "referenceAllele": "",
          "start": 3529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.3470dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Arg1158GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.3470dup"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.3470dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Arg1158GlufsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Arg1158GlufsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3526,
          "referenceAllele": "",
          "start": 3526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.3470dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Arg1158GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.2:c.1823dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3627,
          "referenceAllele": "",
          "start": 3627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.3470dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Arg1158GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3715,
          "referenceAllele": "",
          "start": 3715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*2792dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*2792dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3617,
          "referenceAllele": "",
          "start": 3617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.3470dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.Arg1158GlufsTer6",
        "hgvsWellDefined": "ENSP00000423828.2:p.[Arg1158_Pro1159delinsGlu;Tyr1162_Ile1164del;Tyr1166_Ser1180del;Lys1182_Asp1186del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 10092,
          "referenceAllele": "",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 10092
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.230+10092dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3555,
          "referenceAllele": "",
          "start": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.3470dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Arg1158GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3663,
          "referenceAllele": "",
          "start": 3663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.3470dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Arg1158GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3629,
          "referenceAllele": "",
          "start": 3629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.3416dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Arg1140GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3866,
          "referenceAllele": "",
          "start": 3866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.3470dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Arg1158GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3609,
          "referenceAllele": "",
          "start": 3609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.3524dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Arg1176GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3713,
          "referenceAllele": "",
          "start": 3713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.3500dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Arg1168GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3510,
          "referenceAllele": "",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.3395dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Arg1133GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3471,
          "referenceAllele": "",
          "start": 3471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.3386dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Arg1130GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3456,
          "referenceAllele": "",
          "start": 3456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.3347dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Arg1117GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3402,
          "referenceAllele": "",
          "start": 3402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.3293dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Arg1099GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3410,
          "referenceAllele": "",
          "start": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.3197dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Arg1067GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3252,
          "referenceAllele": "",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.3167dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Arg1057GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3207,
          "referenceAllele": "",
          "start": 3207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.3092dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Arg1032GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3099,
          "referenceAllele": "",
          "start": 3099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.2990dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Arg998GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3741,
          "referenceAllele": "",
          "start": 3741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.2621dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Arg875GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3529,
          "referenceAllele": "",
          "start": 3529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.3470dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Arg1158GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.3470dup"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.3470dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Arg1158GlufsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Arg1158GlufsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3637,
          "referenceAllele": "",
          "start": 3637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.3470dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Arg1158GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3636,
          "referenceAllele": "",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.3416dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Arg1140GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3873,
          "referenceAllele": "",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.3470dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Arg1158GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3583,
          "referenceAllele": "",
          "start": 3583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.3524dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Arg1176GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3720,
          "referenceAllele": "",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.3500dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Arg1168GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3484,
          "referenceAllele": "",
          "start": 3484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.3395dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Arg1133GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3445,
          "referenceAllele": "",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.3386dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Arg1130GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3430,
          "referenceAllele": "",
          "start": 3430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.3347dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Arg1117GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3376,
          "referenceAllele": "",
          "start": 3376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.3293dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Arg1099GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3417,
          "referenceAllele": "",
          "start": 3417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.3197dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Arg1067GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3226,
          "referenceAllele": "",
          "start": 3226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.3167dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Arg1057GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3181,
          "referenceAllele": "",
          "start": 3181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.3092dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Arg1032GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3073,
          "referenceAllele": "",
          "start": 3073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.2990dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Arg998GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3715,
          "referenceAllele": "",
          "start": 3715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.2621dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Arg875GlufsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}