{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16023174",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.848G>T (p.Arg283Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6475364",
        "active": true,
        "id": "COSM6475364"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112151205G>T?assembly=hg19",
        "id": "chr5:g.112151205G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112815508G>T?assembly=hg38",
        "id": "chr5:g.112815508G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112815508,
          "referenceAllele": "G",
          "start": 112815507
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112815508G>T",
        "CM000667.2:g.112815508G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112151205,
          "referenceAllele": "G",
          "start": 112151204
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112151205G>T",
        "CM000667.1:g.112151205G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112179104,
          "referenceAllele": "G",
          "start": 112179103
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112179104G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127988,
          "referenceAllele": "G",
          "start": 127987
        }
      ],
      "hgvs": [
        "NG_008481.4:g.127988G>T",
        "LRG_130:g.127988G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "referenceAllele": "G",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:p.Arg283Leu",
        "hgvsWellDefined": "ENSP00000484935.2:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Arg283Leu",
        "hgvsWellDefined": "ENSP00000473355.2:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505084.2:n.904G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*854G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*854G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.794G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Arg265Leu",
        "hgvsWellDefined": "ENSP00000423224.2:p.Arg265Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "G",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Arg283Leu",
        "hgvsWellDefined": "ENSP00000426541.2:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Arg283Leu",
        "hgvsWellDefined": "ENSP00000423828.3:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Arg283Leu",
        "hgvsWellDefined": "ENSP00000257430.4:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.848G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.848G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Arg283Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Arg283Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Arg283Leu",
        "hgvsWellDefined": "ENSP00000257430.4:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.794G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:p.Arg265Leu",
        "hgvsWellDefined": "ENSP00000423224.1:p.Arg265Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Arg283Leu",
        "hgvsWellDefined": "ENSP00000427089.2:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*170G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*170G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 995,
          "referenceAllele": "G",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.Arg283Leu",
        "hgvsWellDefined": "ENSP00000423828.2:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Arg283Leu",
        "hgvsWellDefined": "NP_000029.2:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1041,
          "referenceAllele": "G",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Arg283Leu",
        "hgvsWellDefined": "NP_001120982.1:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1007,
          "referenceAllele": "G",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.794G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Arg265Leu",
        "hgvsWellDefined": "NP_001120983.2:p.Arg265Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "G",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Arg283Leu",
        "hgvsWellDefined": "NP_001341824.1:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Arg283Leu",
        "hgvsWellDefined": "NP_001341825.1:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.878G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Arg293Leu",
        "hgvsWellDefined": "NP_001341826.1:p.Arg293Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "G",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.773G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Arg258Leu",
        "hgvsWellDefined": "NP_001341827.1:p.Arg258Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "G",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.764G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Arg255Leu",
        "hgvsWellDefined": "NP_001341828.1:p.Arg255Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "referenceAllele": "G",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.671G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Arg224Leu",
        "hgvsWellDefined": "NP_001341829.1:p.Arg224Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "referenceAllele": "G",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.671G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Arg224Leu",
        "hgvsWellDefined": "NP_001341830.1:p.Arg224Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.878G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Arg293Leu",
        "hgvsWellDefined": "NP_001341831.1:p.Arg293Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Arg283Leu",
        "hgvsWellDefined": "NP_001341832.1:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "G",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.773G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Arg258Leu",
        "hgvsWellDefined": "NP_001341833.1:p.Arg258Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "referenceAllele": "G",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.671G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Arg224Leu",
        "hgvsWellDefined": "NP_001341834.1:p.Arg224Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.-2G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:n.-2G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Arg283Leu",
        "hgvsWellDefined": "NP_000029.2:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.848G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.848G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Arg283Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Arg283Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Arg283Leu",
        "hgvsWellDefined": "NP_001120982.1:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1014,
          "referenceAllele": "G",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.794G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Arg265Leu",
        "hgvsWellDefined": "NP_001120983.2:p.Arg265Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Arg283Leu",
        "hgvsWellDefined": "NP_001341824.1:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Arg283Leu",
        "hgvsWellDefined": "NP_001341825.1:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.878G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Arg293Leu",
        "hgvsWellDefined": "NP_001341826.1:p.Arg293Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.773G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Arg258Leu",
        "hgvsWellDefined": "NP_001341827.1:p.Arg258Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 823,
          "referenceAllele": "G",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.764G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Arg255Leu",
        "hgvsWellDefined": "NP_001341828.1:p.Arg255Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.671G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Arg224Leu",
        "hgvsWellDefined": "NP_001341829.1:p.Arg224Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.671G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Arg224Leu",
        "hgvsWellDefined": "NP_001341830.1:p.Arg224Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.878G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Arg293Leu",
        "hgvsWellDefined": "NP_001341831.1:p.Arg293Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.848G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Arg283Leu",
        "hgvsWellDefined": "NP_001341832.1:p.Arg283Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.773G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Arg258Leu",
        "hgvsWellDefined": "NP_001341833.1:p.Arg258Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.671G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Arg224Leu",
        "hgvsWellDefined": "NP_001341834.1:p.Arg224Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.-2G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:n.-2G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}