{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA048853",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.764A>G (p.His255Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=239531[alleleid]",
        "alleleId": 239531,
        "preferredName": "NM_000038.6(APC):c.764A>G (p.His255Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/236648",
        "RCV": [
          "RCV000574604",
          "RCV001192799",
          "RCV001699072",
          "RCV003401163",
          "RCV003535644",
          "RCV003998691"
        ],
        "variationId": 236648
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112137010-A-G",
        "id": "5-112137010-A-G",
        "variant": "5:112137010 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112137010A>G?assembly=hg19",
        "id": "chr5:g.112137010A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112801313A>G?assembly=hg38",
        "id": "chr5:g.112801313A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/530670052",
        "rs": 530670052
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112137010-A-G?dataset=gnomad_r2_1",
        "id": "5-112137010-A-G",
        "variant": "5:112137010 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112801313-A-G?dataset=gnomad_r3",
        "id": "5-112801313-A-G",
        "variant": "5:112801313 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112801313-A-G?dataset=gnomad_r4",
        "id": "5-112801313-A-G",
        "variant": "5:112801313 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112801313,
          "referenceAllele": "A",
          "start": 112801312
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112801313A>G",
        "CM000667.2:g.112801313A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112137010,
          "referenceAllele": "A",
          "start": 112137009
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112137010A>G",
        "CM000667.1:g.112137010A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112164909,
          "referenceAllele": "A",
          "start": 112164908
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112164909A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 113793,
          "referenceAllele": "A",
          "start": 113792
        }
      ],
      "hgvs": [
        "NG_008481.4:g.113793A>G",
        "LRG_130:g.113793A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "referenceAllele": "A",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:p.His255Arg",
        "hgvsWellDefined": "ENSP00000484935.2:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 820,
          "referenceAllele": "A",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.His255Arg",
        "hgvsWellDefined": "ENSP00000473355.2:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 820,
          "referenceAllele": "A",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505084.2:n.820A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1144,
          "referenceAllele": "A",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*770A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*770A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 906,
          "referenceAllele": "A",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.His237Arg",
        "hgvsWellDefined": "ENSP00000423224.2:p.His237Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 914,
          "referenceAllele": "A",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.His255Arg",
        "hgvsWellDefined": "ENSP00000426541.2:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "A",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.His255Arg",
        "hgvsWellDefined": "ENSP00000423828.3:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.His255Arg",
        "hgvsWellDefined": "ENSP00000257430.4:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.764A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.764A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.His255Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.His255Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 820,
          "referenceAllele": "A",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.His255Arg",
        "hgvsWellDefined": "ENSP00000257430.4:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 906,
          "referenceAllele": "A",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:p.His237Arg",
        "hgvsWellDefined": "ENSP00000423224.1:p.His237Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "referenceAllele": "A",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.His255Arg",
        "hgvsWellDefined": "ENSP00000427089.2:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:p.His255Arg",
        "hgvsWellDefined": "ENSP00000424265.1:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 911,
          "referenceAllele": "A",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.His255Arg",
        "hgvsWellDefined": "ENSP00000423828.2:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA16040133",
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.His255Arg",
        "hgvsWellDefined": "NP_000029.2:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645398785",
      "coordinates": [
        {
          "allele": "G",
          "end": 957,
          "referenceAllele": "A",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.His255Arg",
        "hgvsWellDefined": "NP_001120982.1:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825637518",
      "coordinates": [
        {
          "allele": "G",
          "end": 923,
          "referenceAllele": "A",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.His237Arg",
        "hgvsWellDefined": "NP_001120983.2:p.His237Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827940242",
      "coordinates": [
        {
          "allele": "G",
          "end": 1160,
          "referenceAllele": "A",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.His255Arg",
        "hgvsWellDefined": "NP_001341824.1:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827949428",
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.His255Arg",
        "hgvsWellDefined": "NP_001341825.1:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827955106",
      "coordinates": [
        {
          "allele": "G",
          "end": 1007,
          "referenceAllele": "A",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.794A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.His265Arg",
        "hgvsWellDefined": "NP_001341826.1:p.His265Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827964073",
      "coordinates": [
        {
          "allele": "G",
          "end": 804,
          "referenceAllele": "A",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.689A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.His230Arg",
        "hgvsWellDefined": "NP_001341827.1:p.His230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827973230",
      "coordinates": [
        {
          "allele": "G",
          "end": 765,
          "referenceAllele": "A",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.680A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.His227Arg",
        "hgvsWellDefined": "NP_001341828.1:p.His227Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827982329",
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "A",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.587A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.His196Arg",
        "hgvsWellDefined": "NP_001341829.1:p.His196Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827991406",
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "A",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.587A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.His196Arg",
        "hgvsWellDefined": "NP_001341830.1:p.His196Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916042216",
      "coordinates": [
        {
          "allele": "G",
          "end": 1007,
          "referenceAllele": "A",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.794A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.His265Arg",
        "hgvsWellDefined": "NP_001341831.1:p.His265Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828014861",
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.His255Arg",
        "hgvsWellDefined": "NP_001341832.1:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828031992",
      "coordinates": [
        {
          "allele": "G",
          "end": 804,
          "referenceAllele": "A",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.689A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.His230Arg",
        "hgvsWellDefined": "NP_001341833.1:p.His230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828051417",
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "A",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.587A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.His196Arg",
        "hgvsWellDefined": "NP_001341834.1:p.His196Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.-272A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:n.-272A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA16040133",
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.His255Arg",
        "hgvsWellDefined": "NP_000029.2:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.764A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.764A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.His255Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.His255Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645398785",
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "A",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.His255Arg",
        "hgvsWellDefined": "NP_001120982.1:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825637518",
      "coordinates": [
        {
          "allele": "G",
          "end": 930,
          "referenceAllele": "A",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.His237Arg",
        "hgvsWellDefined": "NP_001120983.2:p.His237Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827940242",
      "coordinates": [
        {
          "allele": "G",
          "end": 1167,
          "referenceAllele": "A",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.His255Arg",
        "hgvsWellDefined": "NP_001341824.1:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827949428",
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.His255Arg",
        "hgvsWellDefined": "NP_001341825.1:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827955106",
      "coordinates": [
        {
          "allele": "G",
          "end": 1014,
          "referenceAllele": "A",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.794A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.His265Arg",
        "hgvsWellDefined": "NP_001341826.1:p.His265Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827964073",
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.689A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.His230Arg",
        "hgvsWellDefined": "NP_001341827.1:p.His230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827973230",
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "A",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.680A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.His227Arg",
        "hgvsWellDefined": "NP_001341828.1:p.His227Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827982329",
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "referenceAllele": "A",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.587A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.His196Arg",
        "hgvsWellDefined": "NP_001341829.1:p.His196Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827991406",
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "referenceAllele": "A",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.587A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.His196Arg",
        "hgvsWellDefined": "NP_001341830.1:p.His196Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916042216",
      "coordinates": [
        {
          "allele": "G",
          "end": 1014,
          "referenceAllele": "A",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.794A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.His265Arg",
        "hgvsWellDefined": "NP_001341831.1:p.His265Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828014861",
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.His255Arg",
        "hgvsWellDefined": "NP_001341832.1:p.His255Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828031992",
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.689A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.His230Arg",
        "hgvsWellDefined": "NP_001341833.1:p.His230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828051417",
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "referenceAllele": "A",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.587A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.His196Arg",
        "hgvsWellDefined": "NP_001341834.1:p.His196Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.-272A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:n.-272A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}