{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA004248",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.1331A>G (p.His444Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=182346[alleleid]",
        "alleleId": 182346,
        "preferredName": "NM_000038.6(APC):c.1331A>G (p.His444Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/186336",
        "RCV": [
          "RCV000165915",
          "RCV003650426"
        ],
        "variationId": 186336
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112157611-A-G",
        "id": "5-112157611-A-G",
        "variant": "5:112157611 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112157611A>G?assembly=hg19",
        "id": "chr5:g.112157611A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112821914A>G?assembly=hg38",
        "id": "chr5:g.112821914A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371065509",
        "rs": 371065509
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112157611-A-G?dataset=gnomad_r2_1",
        "id": "5-112157611-A-G",
        "variant": "5:112157611 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112821914-A-G?dataset=gnomad_r3",
        "id": "5-112821914-A-G",
        "variant": "5:112821914 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112821914-A-G?dataset=gnomad_r4",
        "id": "5-112821914-A-G",
        "variant": "5:112821914 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112821914,
          "referenceAllele": "A",
          "start": 112821913
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112821914A>G",
        "CM000667.2:g.112821914A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112157611,
          "referenceAllele": "A",
          "start": 112157610
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112157611A>G",
        "CM000667.1:g.112157611A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112185510,
          "referenceAllele": "A",
          "start": 112185509
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112185510A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 134394,
          "referenceAllele": "A",
          "start": 134393
        }
      ],
      "hgvs": [
        "NG_008481.4:g.134394A>G",
        "LRG_130:g.134394A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1331,
          "referenceAllele": "A",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:p.His444Arg",
        "hgvsWellDefined": "ENSP00000484935.2:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "A",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.His444Arg",
        "hgvsWellDefined": "ENSP00000473355.2:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "A",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505084.2:n.1387A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1711,
          "referenceAllele": "A",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*1337A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*1337A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1473,
          "referenceAllele": "A",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.1277A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.His426Arg",
        "hgvsWellDefined": "ENSP00000423224.2:p.His426Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1481,
          "referenceAllele": "A",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.His444Arg",
        "hgvsWellDefined": "ENSP00000426541.2:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1682,
          "referenceAllele": "A",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.His444Arg",
        "hgvsWellDefined": "ENSP00000423828.3:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1390,
          "referenceAllele": "A",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.His444Arg",
        "hgvsWellDefined": "ENSP00000257430.4:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.1331A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.1331A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.His444Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.His444Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "A",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.His444Arg",
        "hgvsWellDefined": "ENSP00000257430.4:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19,
          "referenceAllele": "A",
          "start": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.2:c.19A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1473,
          "referenceAllele": "A",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.1277A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:p.His426Arg",
        "hgvsWellDefined": "ENSP00000423224.1:p.His426Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1488,
          "referenceAllele": "A",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.His444Arg",
        "hgvsWellDefined": "ENSP00000427089.2:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1576,
          "referenceAllele": "A",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*653A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*653A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1478,
          "referenceAllele": "A",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.His444Arg",
        "hgvsWellDefined": "ENSP00000423828.2:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA194526",
      "coordinates": [
        {
          "allele": "G",
          "end": 1416,
          "referenceAllele": "A",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.His444Arg",
        "hgvsWellDefined": "NP_000029.2:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA194527",
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "A",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.His444Arg",
        "hgvsWellDefined": "NP_001120982.1:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA194525",
      "coordinates": [
        {
          "allele": "G",
          "end": 1490,
          "referenceAllele": "A",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.1277A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.His426Arg",
        "hgvsWellDefined": "NP_001120983.2:p.His426Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827940848",
      "coordinates": [
        {
          "allele": "G",
          "end": 1727,
          "referenceAllele": "A",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.His444Arg",
        "hgvsWellDefined": "NP_001341824.1:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827949969",
      "coordinates": [
        {
          "allele": "G",
          "end": 1416,
          "referenceAllele": "A",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.His444Arg",
        "hgvsWellDefined": "NP_001341825.1:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916041952",
      "coordinates": [
        {
          "allele": "G",
          "end": 1574,
          "referenceAllele": "A",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.1361A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.His454Arg",
        "hgvsWellDefined": "NP_001341826.1:p.His454Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827964675",
      "coordinates": [
        {
          "allele": "G",
          "end": 1371,
          "referenceAllele": "A",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.1256A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.His419Arg",
        "hgvsWellDefined": "NP_001341827.1:p.His419Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827973835",
      "coordinates": [
        {
          "allele": "G",
          "end": 1332,
          "referenceAllele": "A",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.1247A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.His416Arg",
        "hgvsWellDefined": "NP_001341828.1:p.His416Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827982931",
      "coordinates": [
        {
          "allele": "G",
          "end": 1263,
          "referenceAllele": "A",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.1154A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.His385Arg",
        "hgvsWellDefined": "NP_001341829.1:p.His385Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827992010",
      "coordinates": [
        {
          "allele": "G",
          "end": 1263,
          "referenceAllele": "A",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.1154A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.His385Arg",
        "hgvsWellDefined": "NP_001341830.1:p.His385Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828000281",
      "coordinates": [
        {
          "allele": "G",
          "end": 1271,
          "referenceAllele": "A",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.1058A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.His353Arg",
        "hgvsWellDefined": "NP_001341831.1:p.His353Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828015447",
      "coordinates": [
        {
          "allele": "G",
          "end": 1113,
          "referenceAllele": "A",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.1028A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.His343Arg",
        "hgvsWellDefined": "NP_001341832.1:p.His343Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828032416",
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "A",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.953A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.His318Arg",
        "hgvsWellDefined": "NP_001341833.1:p.His318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052396",
      "coordinates": [
        {
          "allele": "G",
          "end": 960,
          "referenceAllele": "A",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.851A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.His284Arg",
        "hgvsWellDefined": "NP_001341834.1:p.His284Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828015317",
      "coordinates": [
        {
          "allele": "G",
          "end": 1602,
          "referenceAllele": "A",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.482A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.His161Arg",
        "hgvsWellDefined": "NP_001341835.1:p.His161Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA194526",
      "coordinates": [
        {
          "allele": "G",
          "end": 1390,
          "referenceAllele": "A",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.His444Arg",
        "hgvsWellDefined": "NP_000029.2:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.1331A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.1331A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.His444Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.His444Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA194527",
      "coordinates": [
        {
          "allele": "G",
          "end": 1498,
          "referenceAllele": "A",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.His444Arg",
        "hgvsWellDefined": "NP_001120982.1:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA194525",
      "coordinates": [
        {
          "allele": "G",
          "end": 1497,
          "referenceAllele": "A",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.1277A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.His426Arg",
        "hgvsWellDefined": "NP_001120983.2:p.His426Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827940848",
      "coordinates": [
        {
          "allele": "G",
          "end": 1734,
          "referenceAllele": "A",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.His444Arg",
        "hgvsWellDefined": "NP_001341824.1:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827949969",
      "coordinates": [
        {
          "allele": "G",
          "end": 1390,
          "referenceAllele": "A",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.His444Arg",
        "hgvsWellDefined": "NP_001341825.1:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916041952",
      "coordinates": [
        {
          "allele": "G",
          "end": 1581,
          "referenceAllele": "A",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.1361A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.His454Arg",
        "hgvsWellDefined": "NP_001341826.1:p.His454Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827964675",
      "coordinates": [
        {
          "allele": "G",
          "end": 1345,
          "referenceAllele": "A",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.1256A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.His419Arg",
        "hgvsWellDefined": "NP_001341827.1:p.His419Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827973835",
      "coordinates": [
        {
          "allele": "G",
          "end": 1306,
          "referenceAllele": "A",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.1247A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.His416Arg",
        "hgvsWellDefined": "NP_001341828.1:p.His416Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827982931",
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "A",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.1154A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.His385Arg",
        "hgvsWellDefined": "NP_001341829.1:p.His385Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827992010",
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "A",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.1154A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.His385Arg",
        "hgvsWellDefined": "NP_001341830.1:p.His385Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828000281",
      "coordinates": [
        {
          "allele": "G",
          "end": 1278,
          "referenceAllele": "A",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.1058A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.His353Arg",
        "hgvsWellDefined": "NP_001341831.1:p.His353Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828015447",
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "A",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.1028A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.His343Arg",
        "hgvsWellDefined": "NP_001341832.1:p.His343Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828032416",
      "coordinates": [
        {
          "allele": "G",
          "end": 1042,
          "referenceAllele": "A",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.953A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.His318Arg",
        "hgvsWellDefined": "NP_001341833.1:p.His318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052396",
      "coordinates": [
        {
          "allele": "G",
          "end": 934,
          "referenceAllele": "A",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.851A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.His284Arg",
        "hgvsWellDefined": "NP_001341834.1:p.His284Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828015317",
      "coordinates": [
        {
          "allele": "G",
          "end": 1576,
          "referenceAllele": "A",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.482A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.His161Arg",
        "hgvsWellDefined": "NP_001341835.1:p.His161Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}