{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10584232",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.-43A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244410[alleleid]",
        "alleleId": 244410,
        "preferredName": "NM_000038.6(APC):c.-43A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/245956",
        "RCV": [
          "RCV000235958",
          "RCV000708948",
          "RCV003955387"
        ],
        "variationId": 245956
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112073598A>C?assembly=hg19",
        "id": "chr5:g.112073598A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112737901A>C?assembly=hg38",
        "id": "chr5:g.112737901A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/879254014",
        "rs": 879254014
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112737901-A-C?dataset=gnomad_r3",
        "id": "5-112737901-A-C",
        "variant": "5:112737901 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112737901-A-C?dataset=gnomad_r4",
        "id": "5-112737901-A-C",
        "variant": "5:112737901 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 112737901,
          "referenceAllele": "A",
          "start": 112737900
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112737901A>C",
        "CM000667.2:g.112737901A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 112073598,
          "referenceAllele": "A",
          "start": 112073597
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112073598A>C",
        "CM000667.1:g.112073598A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 112101497,
          "referenceAllele": "A",
          "start": 112101496
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112101497A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50381,
          "referenceAllele": "A",
          "start": 50380
        }
      ],
      "hgvs": [
        "NG_008481.4:g.50381A>C",
        "LRG_130:g.50381A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14,
          "referenceAllele": "A",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.-43A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:n.-43A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14,
          "referenceAllele": "A",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505084.2:n.14A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 362,
          "endIntronDirection": "-",
          "endIntronOffset": 16971,
          "referenceAllele": "A",
          "start": 362,
          "startIntronDirection": "-",
          "startIntronOffset": 16972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.166-16972A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.166-16972A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 361,
          "endIntronDirection": "-",
          "endIntronOffset": 28424,
          "referenceAllele": "A",
          "start": 361,
          "startIntronDirection": "-",
          "startIntronOffset": 28425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.166-28425A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:n.166-28425A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "endIntronDirection": "-",
          "endIntronOffset": 16971,
          "referenceAllele": "A",
          "start": 132,
          "startIntronDirection": "-",
          "startIntronOffset": 16972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.-18-16972A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:n.-18-16972A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.-43A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:n.-43A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.-43A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.-43A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:n.-43A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:n.-43A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14,
          "referenceAllele": "A",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.-43A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:n.-43A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 362,
          "endIntronDirection": "-",
          "endIntronOffset": 16971,
          "referenceAllele": "A",
          "start": 362,
          "startIntronDirection": "-",
          "startIntronOffset": 16972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.1:c.166-16972A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.166-16972A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 361,
          "endIntronDirection": "-",
          "endIntronOffset": 28424,
          "referenceAllele": "A",
          "start": 361,
          "startIntronDirection": "-",
          "startIntronOffset": 28425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.166-28425A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:n.166-28425A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7,
          "referenceAllele": "A",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.-151A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:n.-151A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.-43A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.-43A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "endIntronDirection": "-",
          "endIntronOffset": 16971,
          "referenceAllele": "A",
          "start": 152,
          "startIntronDirection": "-",
          "startIntronOffset": 16972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.5:c.-18-16972A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.1:n.-18-16972A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.-43A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:n.-43A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.-151A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:n.-151A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "endIntronDirection": "-",
          "endIntronOffset": 28424,
          "referenceAllele": "A",
          "start": 378,
          "startIntronDirection": "-",
          "startIntronOffset": 28425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.166-28425A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:n.166-28425A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "endIntronDirection": "-",
          "endIntronOffset": 16971,
          "referenceAllele": "A",
          "start": 378,
          "startIntronDirection": "-",
          "startIntronOffset": 16972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.-18-16972A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:n.-18-16972A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.-43A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:n.-43A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "endIntronDirection": "-",
          "endIntronOffset": 28424,
          "referenceAllele": "A",
          "start": 378,
          "startIntronDirection": "-",
          "startIntronOffset": 28425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.166-28425A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:n.166-28425A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.-73A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:n.-73A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.-43A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:n.-43A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.-67A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:n.-67A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.-67A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:n.-67A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "endIntronDirection": "-",
          "endIntronOffset": 28424,
          "referenceAllele": "A",
          "start": 378,
          "startIntronDirection": "-",
          "startIntronOffset": 28425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.166-28425A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:n.166-28425A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.-43A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:n.-43A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.-73A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:n.-73A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.-67A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:n.-67A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.-1078A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:n.-1078A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.-43A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:n.-43A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.-43A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.-43A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:n.-43A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:n.-43A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.-151A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:n.-151A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "-",
          "endIntronOffset": 28424,
          "referenceAllele": "A",
          "start": 385,
          "startIntronDirection": "-",
          "startIntronOffset": 28425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.166-28425A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:n.166-28425A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "-",
          "endIntronOffset": 16971,
          "referenceAllele": "A",
          "start": 385,
          "startIntronDirection": "-",
          "startIntronOffset": 16972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.-18-16972A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:n.-18-16972A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.-43A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:n.-43A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "-",
          "endIntronOffset": 28424,
          "referenceAllele": "A",
          "start": 385,
          "startIntronDirection": "-",
          "startIntronOffset": 28425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.166-28425A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:n.166-28425A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.-73A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:n.-73A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.-43A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:n.-43A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.-67A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:n.-67A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.-67A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:n.-67A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "-",
          "endIntronOffset": 28424,
          "referenceAllele": "A",
          "start": 385,
          "startIntronDirection": "-",
          "startIntronOffset": 28425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.166-28425A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:n.166-28425A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.-43A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:n.-43A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.-73A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:n.-73A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.-67A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:n.-67A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.-1078A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:n.-1078A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}