{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA029022",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.1691G>A (p.Arg564Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=233035[alleleid]",
        "alleleId": 233035,
        "preferredName": "NM_000038.6(APC):c.1691G>A (p.Arg564Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/233448",
        "RCV": [
          "RCV000213578",
          "RCV000779711",
          "RCV001572567",
          "RCV003743674",
          "RCV003998557"
        ],
        "variationId": 233448
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112164617-G-A",
        "id": "5-112164617-G-A",
        "variant": "5:112164617 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112164617G>A?assembly=hg19",
        "id": "chr5:g.112164617G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112828920G>A?assembly=hg38",
        "id": "chr5:g.112828920G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747418061",
        "rs": 747418061
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112164617-G-A?dataset=gnomad_r2_1",
        "id": "5-112164617-G-A",
        "variant": "5:112164617 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112828920-G-A?dataset=gnomad_r3",
        "id": "5-112828920-G-A",
        "variant": "5:112828920 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112828920-G-A?dataset=gnomad_r4",
        "id": "5-112828920-G-A",
        "variant": "5:112828920 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112828920,
          "referenceAllele": "G",
          "start": 112828919
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112828920G>A",
        "CM000667.2:g.112828920G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112164617,
          "referenceAllele": "G",
          "start": 112164616
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112164617G>A",
        "CM000667.1:g.112164617G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112192516,
          "referenceAllele": "G",
          "start": 112192515
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112192516G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 141400,
          "referenceAllele": "G",
          "start": 141399
        }
      ],
      "hgvs": [
        "NG_008481.4:g.141400G>A",
        "LRG_130:g.141400G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1408,
          "endIntronDirection": "-",
          "endIntronOffset": 6030,
          "referenceAllele": "G",
          "start": 1408,
          "startIntronDirection": "-",
          "startIntronOffset": 6031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.1409-6031G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:n.1409-6031G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1801,
          "referenceAllele": "G",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.1745G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Arg582Gln",
        "hgvsWellDefined": "ENSP00000473355.2:p.Arg582Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "referenceAllele": "G",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505084.2:n.1747G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2071,
          "referenceAllele": "G",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*1697G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*1697G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1833,
          "referenceAllele": "G",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.1637G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Arg546Gln",
        "hgvsWellDefined": "ENSP00000423224.2:p.Arg546Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1841,
          "referenceAllele": "G",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Arg564Gln",
        "hgvsWellDefined": "ENSP00000426541.2:p.Arg564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Arg564Gln",
        "hgvsWellDefined": "ENSP00000423828.3:p.Arg564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1750,
          "referenceAllele": "G",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Arg564Gln",
        "hgvsWellDefined": "ENSP00000257430.4:p.Arg564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.1691G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.1691G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Arg564Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Arg564Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "referenceAllele": "G",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Arg564Gln",
        "hgvsWellDefined": "ENSP00000257430.4:p.Arg564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 6030,
          "referenceAllele": "G",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 6031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.2:c.97-6031G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 380,
          "referenceAllele": "G",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.2:c.380G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.1:p.Arg127Gln",
        "hgvsWellDefined": "ENSP00000473355.1:p.Arg127Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 178,
          "referenceAllele": "G",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505084.1:n.178G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1833,
          "referenceAllele": "G",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.1637G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:p.Arg546Gln",
        "hgvsWellDefined": "ENSP00000423224.1:p.Arg546Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1848,
          "referenceAllele": "G",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Arg564Gln",
        "hgvsWellDefined": "ENSP00000427089.2:p.Arg564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1936,
          "referenceAllele": "G",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*1013G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*1013G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1838,
          "referenceAllele": "G",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.Arg564Gln",
        "hgvsWellDefined": "ENSP00000423828.2:p.Arg564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 178,
          "referenceAllele": "G",
          "start": 177
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.178G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA16039854",
      "coordinates": [
        {
          "allele": "A",
          "end": 1776,
          "referenceAllele": "G",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Arg564Gln",
        "hgvsWellDefined": "NP_000029.2:p.Arg564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645398921",
      "coordinates": [
        {
          "allele": "A",
          "end": 1884,
          "referenceAllele": "G",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Arg564Gln",
        "hgvsWellDefined": "NP_001120982.1:p.Arg564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825638423",
      "coordinates": [
        {
          "allele": "A",
          "end": 1850,
          "referenceAllele": "G",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.1637G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Arg546Gln",
        "hgvsWellDefined": "NP_001120983.2:p.Arg546Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827941216",
      "coordinates": [
        {
          "allele": "A",
          "end": 2087,
          "referenceAllele": "G",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Arg564Gln",
        "hgvsWellDefined": "NP_001341824.1:p.Arg564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916039609",
      "coordinates": [
        {
          "allele": "A",
          "end": 1830,
          "referenceAllele": "G",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.1745G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Arg582Gln",
        "hgvsWellDefined": "NP_001341825.1:p.Arg582Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827955908",
      "coordinates": [
        {
          "allele": "A",
          "end": 1934,
          "referenceAllele": "G",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.1721G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Arg574Gln",
        "hgvsWellDefined": "NP_001341826.1:p.Arg574Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827965046",
      "coordinates": [
        {
          "allele": "A",
          "end": 1731,
          "referenceAllele": "G",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.1616G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Arg539Gln",
        "hgvsWellDefined": "NP_001341827.1:p.Arg539Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827974205",
      "coordinates": [
        {
          "allele": "A",
          "end": 1692,
          "referenceAllele": "G",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.1607G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Arg536Gln",
        "hgvsWellDefined": "NP_001341828.1:p.Arg536Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827983305",
      "coordinates": [
        {
          "allele": "A",
          "end": 1677,
          "referenceAllele": "G",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.1568G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Arg523Gln",
        "hgvsWellDefined": "NP_001341829.1:p.Arg523Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827992380",
      "coordinates": [
        {
          "allele": "A",
          "end": 1623,
          "referenceAllele": "G",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.1514G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Arg505Gln",
        "hgvsWellDefined": "NP_001341830.1:p.Arg505Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828000540",
      "coordinates": [
        {
          "allele": "A",
          "end": 1631,
          "referenceAllele": "G",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.1418G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Arg473Gln",
        "hgvsWellDefined": "NP_001341831.1:p.Arg473Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828016215",
      "coordinates": [
        {
          "allele": "A",
          "end": 1473,
          "referenceAllele": "G",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.1388G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Arg463Gln",
        "hgvsWellDefined": "NP_001341832.1:p.Arg463Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828033430",
      "coordinates": [
        {
          "allele": "A",
          "end": 1428,
          "referenceAllele": "G",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Arg438Gln",
        "hgvsWellDefined": "NP_001341833.1:p.Arg438Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828053354",
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "referenceAllele": "G",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.1211G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Arg404Gln",
        "hgvsWellDefined": "NP_001341834.1:p.Arg404Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828016049",
      "coordinates": [
        {
          "allele": "A",
          "end": 1962,
          "referenceAllele": "G",
          "start": 1961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Arg281Gln",
        "hgvsWellDefined": "NP_001341835.1:p.Arg281Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA16039854",
      "coordinates": [
        {
          "allele": "A",
          "end": 1750,
          "referenceAllele": "G",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Arg564Gln",
        "hgvsWellDefined": "NP_000029.2:p.Arg564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.1691G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.1691G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Arg564Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Arg564Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645398921",
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "referenceAllele": "G",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Arg564Gln",
        "hgvsWellDefined": "NP_001120982.1:p.Arg564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825638423",
      "coordinates": [
        {
          "allele": "A",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.1637G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Arg546Gln",
        "hgvsWellDefined": "NP_001120983.2:p.Arg546Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827941216",
      "coordinates": [
        {
          "allele": "A",
          "end": 2094,
          "referenceAllele": "G",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Arg564Gln",
        "hgvsWellDefined": "NP_001341824.1:p.Arg564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916039609",
      "coordinates": [
        {
          "allele": "A",
          "end": 1804,
          "referenceAllele": "G",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.1745G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Arg582Gln",
        "hgvsWellDefined": "NP_001341825.1:p.Arg582Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827955908",
      "coordinates": [
        {
          "allele": "A",
          "end": 1941,
          "referenceAllele": "G",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.1721G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Arg574Gln",
        "hgvsWellDefined": "NP_001341826.1:p.Arg574Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827965046",
      "coordinates": [
        {
          "allele": "A",
          "end": 1705,
          "referenceAllele": "G",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.1616G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Arg539Gln",
        "hgvsWellDefined": "NP_001341827.1:p.Arg539Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827974205",
      "coordinates": [
        {
          "allele": "A",
          "end": 1666,
          "referenceAllele": "G",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.1607G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Arg536Gln",
        "hgvsWellDefined": "NP_001341828.1:p.Arg536Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827983305",
      "coordinates": [
        {
          "allele": "A",
          "end": 1651,
          "referenceAllele": "G",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.1568G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Arg523Gln",
        "hgvsWellDefined": "NP_001341829.1:p.Arg523Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827992380",
      "coordinates": [
        {
          "allele": "A",
          "end": 1597,
          "referenceAllele": "G",
          "start": 1596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.1514G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Arg505Gln",
        "hgvsWellDefined": "NP_001341830.1:p.Arg505Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828000540",
      "coordinates": [
        {
          "allele": "A",
          "end": 1638,
          "referenceAllele": "G",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.1418G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Arg473Gln",
        "hgvsWellDefined": "NP_001341831.1:p.Arg473Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828016215",
      "coordinates": [
        {
          "allele": "A",
          "end": 1447,
          "referenceAllele": "G",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.1388G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Arg463Gln",
        "hgvsWellDefined": "NP_001341832.1:p.Arg463Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828033430",
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Arg438Gln",
        "hgvsWellDefined": "NP_001341833.1:p.Arg438Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828053354",
      "coordinates": [
        {
          "allele": "A",
          "end": 1294,
          "referenceAllele": "G",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.1211G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Arg404Gln",
        "hgvsWellDefined": "NP_001341834.1:p.Arg404Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828016049",
      "coordinates": [
        {
          "allele": "A",
          "end": 1936,
          "referenceAllele": "G",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Arg281Gln",
        "hgvsWellDefined": "NP_001341835.1:p.Arg281Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}