{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008117",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49962[alleleid]",
        "alleleId": 49962,
        "preferredName": "NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41523",
        "RCV": [
          "RCV000034408",
          "RCV000115079",
          "RCV000120013",
          "RCV000168362",
          "RCV000350760",
          "RCV003492324",
          "RCV003743549"
        ],
        "variationId": 41523
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112174464-A-G",
        "id": "5-112174464-A-G",
        "variant": "5:112174464 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112174464A>G?assembly=hg19",
        "id": "chr5:g.112174464A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112838767A>G?assembly=hg38",
        "id": "chr5:g.112838767A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148725540",
        "rs": 148725540
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112174464-A-G?dataset=gnomad_r2_1",
        "id": "5-112174464-A-G",
        "variant": "5:112174464 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112838767-A-G?dataset=gnomad_r3",
        "id": "5-112838767-A-G",
        "variant": "5:112838767 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112838767-A-G?dataset=gnomad_r4",
        "id": "5-112838767-A-G",
        "variant": "5:112838767 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112838767,
          "referenceAllele": "A",
          "start": 112838766
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112838767A>G",
        "CM000667.2:g.112838767A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112174464,
          "referenceAllele": "A",
          "start": 112174463
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112174464A>G",
        "CM000667.1:g.112174464A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 112202363,
          "referenceAllele": "A",
          "start": 112202362
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112202363A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 151247,
          "referenceAllele": "A",
          "start": 151246
        }
      ],
      "hgvs": [
        "NG_008481.4:g.151247A>G",
        "LRG_130:g.151247A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2838,
          "referenceAllele": "A",
          "start": 2837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.2838A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:n.2838A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3283,
          "referenceAllele": "A",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.3227A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Asp1076Gly",
        "hgvsWellDefined": "ENSP00000473355.2:p.Asp1076Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3553,
          "referenceAllele": "A",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*3179A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*3179A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3315,
          "referenceAllele": "A",
          "start": 3314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.3119A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Asp1040Gly",
        "hgvsWellDefined": "ENSP00000423224.2:p.Asp1040Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3323,
          "referenceAllele": "A",
          "start": 3322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.3173A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Asp1058Gly",
        "hgvsWellDefined": "ENSP00000426541.2:p.Asp1058Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3524,
          "referenceAllele": "A",
          "start": 3523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.3173A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Asp1058Gly",
        "hgvsWellDefined": "ENSP00000423828.3:p.Asp1058Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3232,
          "referenceAllele": "A",
          "start": 3231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.3173A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Asp1058Gly",
        "hgvsWellDefined": "ENSP00000257430.4:p.Asp1058Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.3173A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.3173A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Asp1058Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Asp1058Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3229,
          "referenceAllele": "A",
          "start": 3228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.3173A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Asp1058Gly",
        "hgvsWellDefined": "ENSP00000257430.4:p.Asp1058Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1526,
          "referenceAllele": "A",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.2:c.1526A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3315,
          "referenceAllele": "A",
          "start": 3314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.3119A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:p.Asp1040Gly",
        "hgvsWellDefined": "ENSP00000423224.1:p.Asp1040Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3330,
          "referenceAllele": "A",
          "start": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.3173A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Asp1058Gly",
        "hgvsWellDefined": "ENSP00000427089.2:p.Asp1058Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3418,
          "referenceAllele": "A",
          "start": 3417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*2495A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*2495A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3320,
          "referenceAllele": "A",
          "start": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.3173A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.Asp1058Gly",
        "hgvsWellDefined": "ENSP00000423828.2:p.Asp1058Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 9795,
          "referenceAllele": "A",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 9794
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.230+9795A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA151439",
      "coordinates": [
        {
          "allele": "G",
          "end": 3258,
          "referenceAllele": "A",
          "start": 3257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.3173A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Asp1058Gly",
        "hgvsWellDefined": "NP_000029.2:p.Asp1058Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA151440",
      "coordinates": [
        {
          "allele": "G",
          "end": 3366,
          "referenceAllele": "A",
          "start": 3365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.3173A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Asp1058Gly",
        "hgvsWellDefined": "NP_001120982.1:p.Asp1058Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA151438",
      "coordinates": [
        {
          "allele": "G",
          "end": 3332,
          "referenceAllele": "A",
          "start": 3331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.3119A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Asp1040Gly",
        "hgvsWellDefined": "NP_001120983.2:p.Asp1040Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827942757",
      "coordinates": [
        {
          "allele": "G",
          "end": 3569,
          "referenceAllele": "A",
          "start": 3568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.3173A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Asp1058Gly",
        "hgvsWellDefined": "NP_001341824.1:p.Asp1058Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827950914",
      "coordinates": [
        {
          "allele": "G",
          "end": 3312,
          "referenceAllele": "A",
          "start": 3311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.3227A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Asp1076Gly",
        "hgvsWellDefined": "NP_001341825.1:p.Asp1076Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827957444",
      "coordinates": [
        {
          "allele": "G",
          "end": 3416,
          "referenceAllele": "A",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.3203A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Asp1068Gly",
        "hgvsWellDefined": "NP_001341826.1:p.Asp1068Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827966580",
      "coordinates": [
        {
          "allele": "G",
          "end": 3213,
          "referenceAllele": "A",
          "start": 3212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.3098A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Asp1033Gly",
        "hgvsWellDefined": "NP_001341827.1:p.Asp1033Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827975755",
      "coordinates": [
        {
          "allele": "G",
          "end": 3174,
          "referenceAllele": "A",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.3089A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Asp1030Gly",
        "hgvsWellDefined": "NP_001341828.1:p.Asp1030Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827984831",
      "coordinates": [
        {
          "allele": "G",
          "end": 3159,
          "referenceAllele": "A",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.3050A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Asp1017Gly",
        "hgvsWellDefined": "NP_001341829.1:p.Asp1017Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916042042",
      "coordinates": [
        {
          "allele": "G",
          "end": 3105,
          "referenceAllele": "A",
          "start": 3104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.2996A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Asp999Gly",
        "hgvsWellDefined": "NP_001341830.1:p.Asp999Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828001486",
      "coordinates": [
        {
          "allele": "G",
          "end": 3113,
          "referenceAllele": "A",
          "start": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.2900A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Asp967Gly",
        "hgvsWellDefined": "NP_001341831.1:p.Asp967Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828019279",
      "coordinates": [
        {
          "allele": "G",
          "end": 2955,
          "referenceAllele": "A",
          "start": 2954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.2870A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Asp957Gly",
        "hgvsWellDefined": "NP_001341832.1:p.Asp957Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828036720",
      "coordinates": [
        {
          "allele": "G",
          "end": 2910,
          "referenceAllele": "A",
          "start": 2909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.2795A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Asp932Gly",
        "hgvsWellDefined": "NP_001341833.1:p.Asp932Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828055447",
      "coordinates": [
        {
          "allele": "G",
          "end": 2802,
          "referenceAllele": "A",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.2693A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Asp898Gly",
        "hgvsWellDefined": "NP_001341834.1:p.Asp898Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828019202",
      "coordinates": [
        {
          "allele": "G",
          "end": 3444,
          "referenceAllele": "A",
          "start": 3443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.2324A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Asp775Gly",
        "hgvsWellDefined": "NP_001341835.1:p.Asp775Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA151439",
      "coordinates": [
        {
          "allele": "G",
          "end": 3232,
          "referenceAllele": "A",
          "start": 3231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.3173A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Asp1058Gly",
        "hgvsWellDefined": "NP_000029.2:p.Asp1058Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.3173A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.3173A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Asp1058Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Asp1058Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA151440",
      "coordinates": [
        {
          "allele": "G",
          "end": 3340,
          "referenceAllele": "A",
          "start": 3339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.3173A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Asp1058Gly",
        "hgvsWellDefined": "NP_001120982.1:p.Asp1058Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA151438",
      "coordinates": [
        {
          "allele": "G",
          "end": 3339,
          "referenceAllele": "A",
          "start": 3338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.3119A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Asp1040Gly",
        "hgvsWellDefined": "NP_001120983.2:p.Asp1040Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827942757",
      "coordinates": [
        {
          "allele": "G",
          "end": 3576,
          "referenceAllele": "A",
          "start": 3575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.3173A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Asp1058Gly",
        "hgvsWellDefined": "NP_001341824.1:p.Asp1058Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827950914",
      "coordinates": [
        {
          "allele": "G",
          "end": 3286,
          "referenceAllele": "A",
          "start": 3285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.3227A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Asp1076Gly",
        "hgvsWellDefined": "NP_001341825.1:p.Asp1076Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827957444",
      "coordinates": [
        {
          "allele": "G",
          "end": 3423,
          "referenceAllele": "A",
          "start": 3422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.3203A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Asp1068Gly",
        "hgvsWellDefined": "NP_001341826.1:p.Asp1068Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827966580",
      "coordinates": [
        {
          "allele": "G",
          "end": 3187,
          "referenceAllele": "A",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.3098A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Asp1033Gly",
        "hgvsWellDefined": "NP_001341827.1:p.Asp1033Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827975755",
      "coordinates": [
        {
          "allele": "G",
          "end": 3148,
          "referenceAllele": "A",
          "start": 3147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.3089A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Asp1030Gly",
        "hgvsWellDefined": "NP_001341828.1:p.Asp1030Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827984831",
      "coordinates": [
        {
          "allele": "G",
          "end": 3133,
          "referenceAllele": "A",
          "start": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.3050A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Asp1017Gly",
        "hgvsWellDefined": "NP_001341829.1:p.Asp1017Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916042042",
      "coordinates": [
        {
          "allele": "G",
          "end": 3079,
          "referenceAllele": "A",
          "start": 3078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.2996A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Asp999Gly",
        "hgvsWellDefined": "NP_001341830.1:p.Asp999Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828001486",
      "coordinates": [
        {
          "allele": "G",
          "end": 3120,
          "referenceAllele": "A",
          "start": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.2900A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Asp967Gly",
        "hgvsWellDefined": "NP_001341831.1:p.Asp967Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828019279",
      "coordinates": [
        {
          "allele": "G",
          "end": 2929,
          "referenceAllele": "A",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.2870A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Asp957Gly",
        "hgvsWellDefined": "NP_001341832.1:p.Asp957Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828036720",
      "coordinates": [
        {
          "allele": "G",
          "end": 2884,
          "referenceAllele": "A",
          "start": 2883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.2795A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Asp932Gly",
        "hgvsWellDefined": "NP_001341833.1:p.Asp932Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828055447",
      "coordinates": [
        {
          "allele": "G",
          "end": 2776,
          "referenceAllele": "A",
          "start": 2775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.2693A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Asp898Gly",
        "hgvsWellDefined": "NP_001341834.1:p.Asp898Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828019202",
      "coordinates": [
        {
          "allele": "G",
          "end": 3418,
          "referenceAllele": "A",
          "start": 3417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.2324A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Asp775Gly",
        "hgvsWellDefined": "NP_001341835.1:p.Asp775Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}