{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008761",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=26697",
        "active": true,
        "id": "COSM26697"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15861[alleleid]",
        "alleleId": 15861,
        "preferredName": "NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/822",
        "RCV": [
          "RCV000000864",
          "RCV000000865",
          "RCV000020088",
          "RCV000034388",
          "RCV000120049",
          "RCV000115087",
          "RCV000210085",
          "RCV000238802",
          "RCV000722046",
          "RCV001195214",
          "RCV001554302",
          "RCV001824556",
          "RCV001535784",
          "RCV003650351"
        ],
        "variationId": 822
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112175211-T-A",
        "id": "5-112175211-T-A",
        "variant": "5:112175211 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112175211T>A?assembly=hg19",
        "id": "chr5:g.112175211T>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112175211_112175216delinsAAAAAG?assembly=hg19",
        "id": "chr5:g.112175211_112175216delinsAAAAAG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112839514T>A?assembly=hg38",
        "id": "chr5:g.112839514T>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112839514_112839519delinsAAAAAG?assembly=hg38",
        "id": "chr5:g.112839514_112839519delinsAAAAAG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1801155",
        "rs": 1801155
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112175211-T-A?dataset=gnomad_r2_1",
        "id": "5-112175211-T-A",
        "variant": "5:112175211 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112839514-T-A?dataset=gnomad_r3",
        "id": "5-112839514-T-A",
        "variant": "5:112839514 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112839514-T-A?dataset=gnomad_r4",
        "id": "5-112839514-T-A",
        "variant": "5:112839514 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112839514,
          "referenceAllele": "T",
          "start": 112839513
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112839514T>A",
        "CM000667.2:g.112839514T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112175211,
          "referenceAllele": "T",
          "start": 112175210
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112175211T>A",
        "CM000667.1:g.112175211T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112203110,
          "referenceAllele": "T",
          "start": 112203109
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112203110T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 151994,
          "referenceAllele": "T",
          "start": 151993
        }
      ],
      "hgvs": [
        "NG_008481.4:g.151994T>A",
        "LRG_130:g.151994T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3585,
          "referenceAllele": "T",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.3585T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:n.3585T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4030,
          "referenceAllele": "T",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.3974T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Ile1325Lys",
        "hgvsWellDefined": "ENSP00000473355.2:p.Ile1325Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4300,
          "referenceAllele": "T",
          "start": 4299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*3926T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*3926T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4062,
          "referenceAllele": "T",
          "start": 4061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.3866T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Ile1289Lys",
        "hgvsWellDefined": "ENSP00000423224.2:p.Ile1289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4070,
          "referenceAllele": "T",
          "start": 4069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.3920T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Ile1307Lys",
        "hgvsWellDefined": "ENSP00000426541.2:p.Ile1307Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4271,
          "referenceAllele": "T",
          "start": 4270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.3920T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Ile1307Lys",
        "hgvsWellDefined": "ENSP00000423828.3:p.Ile1307Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3979,
          "referenceAllele": "T",
          "start": 3978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.3920T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ile1307Lys",
        "hgvsWellDefined": "ENSP00000257430.4:p.Ile1307Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.3920T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.3920T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ile1307Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ile1307Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3976,
          "referenceAllele": "T",
          "start": 3975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.3920T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ile1307Lys",
        "hgvsWellDefined": "ENSP00000257430.4:p.Ile1307Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2273,
          "referenceAllele": "T",
          "start": 2272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.2:c.2273T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4077,
          "referenceAllele": "T",
          "start": 4076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.3920T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Ile1307Lys",
        "hgvsWellDefined": "ENSP00000427089.2:p.Ile1307Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4165,
          "referenceAllele": "T",
          "start": 4164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*3242T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*3242T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 10542,
          "referenceAllele": "T",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 10541
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.230+10542T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114555",
      "coordinates": [
        {
          "allele": "A",
          "end": 4005,
          "referenceAllele": "T",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.3920T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ile1307Lys",
        "hgvsWellDefined": "NP_000029.2:p.Ile1307Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114556",
      "coordinates": [
        {
          "allele": "A",
          "end": 4113,
          "referenceAllele": "T",
          "start": 4112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.3920T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ile1307Lys",
        "hgvsWellDefined": "NP_001120982.1:p.Ile1307Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114554",
      "coordinates": [
        {
          "allele": "A",
          "end": 4079,
          "referenceAllele": "T",
          "start": 4078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.3866T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ile1289Lys",
        "hgvsWellDefined": "NP_001120983.2:p.Ile1289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827943607",
      "coordinates": [
        {
          "allele": "A",
          "end": 4316,
          "referenceAllele": "T",
          "start": 4315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.3920T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ile1307Lys",
        "hgvsWellDefined": "NP_001341824.1:p.Ile1307Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916040075",
      "coordinates": [
        {
          "allele": "A",
          "end": 4059,
          "referenceAllele": "T",
          "start": 4058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.3974T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ile1325Lys",
        "hgvsWellDefined": "NP_001341825.1:p.Ile1325Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827958295",
      "coordinates": [
        {
          "allele": "A",
          "end": 4163,
          "referenceAllele": "T",
          "start": 4162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.3950T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ile1317Lys",
        "hgvsWellDefined": "NP_001341826.1:p.Ile1317Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827967433",
      "coordinates": [
        {
          "allele": "A",
          "end": 3960,
          "referenceAllele": "T",
          "start": 3959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.3845T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ile1282Lys",
        "hgvsWellDefined": "NP_001341827.1:p.Ile1282Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827976606",
      "coordinates": [
        {
          "allele": "A",
          "end": 3921,
          "referenceAllele": "T",
          "start": 3920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.3836T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ile1279Lys",
        "hgvsWellDefined": "NP_001341828.1:p.Ile1279Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827985684",
      "coordinates": [
        {
          "allele": "A",
          "end": 3906,
          "referenceAllele": "T",
          "start": 3905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.3797T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ile1266Lys",
        "hgvsWellDefined": "NP_001341829.1:p.Ile1266Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827994748",
      "coordinates": [
        {
          "allele": "A",
          "end": 3852,
          "referenceAllele": "T",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.3743T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ile1248Lys",
        "hgvsWellDefined": "NP_001341830.1:p.Ile1248Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828001978",
      "coordinates": [
        {
          "allele": "A",
          "end": 3860,
          "referenceAllele": "T",
          "start": 3859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.3647T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ile1216Lys",
        "hgvsWellDefined": "NP_001341831.1:p.Ile1216Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828020686",
      "coordinates": [
        {
          "allele": "A",
          "end": 3702,
          "referenceAllele": "T",
          "start": 3701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.3617T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ile1206Lys",
        "hgvsWellDefined": "NP_001341832.1:p.Ile1206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828038852",
      "coordinates": [
        {
          "allele": "A",
          "end": 3657,
          "referenceAllele": "T",
          "start": 3656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.3542T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ile1181Lys",
        "hgvsWellDefined": "NP_001341833.1:p.Ile1181Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828005595",
      "coordinates": [
        {
          "allele": "A",
          "end": 3549,
          "referenceAllele": "T",
          "start": 3548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.3440T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ile1147Lys",
        "hgvsWellDefined": "NP_001341834.1:p.Ile1147Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828020713",
      "coordinates": [
        {
          "allele": "A",
          "end": 4191,
          "referenceAllele": "T",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.3071T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ile1024Lys",
        "hgvsWellDefined": "NP_001341835.1:p.Ile1024Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114555",
      "coordinates": [
        {
          "allele": "A",
          "end": 3979,
          "referenceAllele": "T",
          "start": 3978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.3920T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ile1307Lys",
        "hgvsWellDefined": "NP_000029.2:p.Ile1307Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.3920T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.3920T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ile1307Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ile1307Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA114556",
      "coordinates": [
        {
          "allele": "A",
          "end": 4087,
          "referenceAllele": "T",
          "start": 4086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.3920T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ile1307Lys",
        "hgvsWellDefined": "NP_001120982.1:p.Ile1307Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114554",
      "coordinates": [
        {
          "allele": "A",
          "end": 4086,
          "referenceAllele": "T",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.3866T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ile1289Lys",
        "hgvsWellDefined": "NP_001120983.2:p.Ile1289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827943607",
      "coordinates": [
        {
          "allele": "A",
          "end": 4323,
          "referenceAllele": "T",
          "start": 4322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.3920T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ile1307Lys",
        "hgvsWellDefined": "NP_001341824.1:p.Ile1307Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916040075",
      "coordinates": [
        {
          "allele": "A",
          "end": 4033,
          "referenceAllele": "T",
          "start": 4032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.3974T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ile1325Lys",
        "hgvsWellDefined": "NP_001341825.1:p.Ile1325Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827958295",
      "coordinates": [
        {
          "allele": "A",
          "end": 4170,
          "referenceAllele": "T",
          "start": 4169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.3950T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ile1317Lys",
        "hgvsWellDefined": "NP_001341826.1:p.Ile1317Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827967433",
      "coordinates": [
        {
          "allele": "A",
          "end": 3934,
          "referenceAllele": "T",
          "start": 3933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.3845T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ile1282Lys",
        "hgvsWellDefined": "NP_001341827.1:p.Ile1282Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827976606",
      "coordinates": [
        {
          "allele": "A",
          "end": 3895,
          "referenceAllele": "T",
          "start": 3894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.3836T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ile1279Lys",
        "hgvsWellDefined": "NP_001341828.1:p.Ile1279Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827985684",
      "coordinates": [
        {
          "allele": "A",
          "end": 3880,
          "referenceAllele": "T",
          "start": 3879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.3797T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ile1266Lys",
        "hgvsWellDefined": "NP_001341829.1:p.Ile1266Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827994748",
      "coordinates": [
        {
          "allele": "A",
          "end": 3826,
          "referenceAllele": "T",
          "start": 3825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.3743T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ile1248Lys",
        "hgvsWellDefined": "NP_001341830.1:p.Ile1248Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828001978",
      "coordinates": [
        {
          "allele": "A",
          "end": 3867,
          "referenceAllele": "T",
          "start": 3866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.3647T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ile1216Lys",
        "hgvsWellDefined": "NP_001341831.1:p.Ile1216Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828020686",
      "coordinates": [
        {
          "allele": "A",
          "end": 3676,
          "referenceAllele": "T",
          "start": 3675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.3617T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ile1206Lys",
        "hgvsWellDefined": "NP_001341832.1:p.Ile1206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828038852",
      "coordinates": [
        {
          "allele": "A",
          "end": 3631,
          "referenceAllele": "T",
          "start": 3630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.3542T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ile1181Lys",
        "hgvsWellDefined": "NP_001341833.1:p.Ile1181Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828005595",
      "coordinates": [
        {
          "allele": "A",
          "end": 3523,
          "referenceAllele": "T",
          "start": 3522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.3440T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ile1147Lys",
        "hgvsWellDefined": "NP_001341834.1:p.Ile1147Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828020713",
      "coordinates": [
        {
          "allele": "A",
          "end": 4165,
          "referenceAllele": "T",
          "start": 4164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.3071T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ile1024Lys",
        "hgvsWellDefined": "NP_001341835.1:p.Ile1024Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}