{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA012518",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151395[alleleid]",
        "alleleId": 151395,
        "preferredName": "NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141681",
        "RCV": [
          "RCV000130294",
          "RCV000255155",
          "RCV000410458",
          "RCV001192912",
          "RCV003998052",
          "RCV003534379"
        ],
        "variationId": 141681
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112178073-C-T",
        "id": "5-112178073-C-T",
        "variant": "5:112178073 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112178073C>T?assembly=hg19",
        "id": "chr5:g.112178073C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112842376C>T?assembly=hg38",
        "id": "chr5:g.112842376C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376494248",
        "rs": 376494248
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112178073-C-T?dataset=gnomad_r2_1",
        "id": "5-112178073-C-T",
        "variant": "5:112178073 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112842376-C-T?dataset=gnomad_r3",
        "id": "5-112842376-C-T",
        "variant": "5:112842376 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112842376-C-T?dataset=gnomad_r4",
        "id": "5-112842376-C-T",
        "variant": "5:112842376 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112842376,
          "referenceAllele": "C",
          "start": 112842375
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112842376C>T",
        "CM000667.2:g.112842376C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112178073,
          "referenceAllele": "C",
          "start": 112178072
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112178073C>T",
        "CM000667.1:g.112178073C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112205972,
          "referenceAllele": "C",
          "start": 112205971
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112205972C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154856,
          "referenceAllele": "C",
          "start": 154855
        }
      ],
      "hgvs": [
        "NG_008481.4:g.154856C>T",
        "LRG_130:g.154856C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6892,
          "referenceAllele": "C",
          "start": 6891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.6836C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Pro2279Leu",
        "hgvsWellDefined": "ENSP00000473355.2:p.Pro2279Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7162,
          "referenceAllele": "C",
          "start": 7161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*6788C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*6788C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6924,
          "referenceAllele": "C",
          "start": 6923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.6728C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Pro2243Leu",
        "hgvsWellDefined": "ENSP00000423224.2:p.Pro2243Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6932,
          "referenceAllele": "C",
          "start": 6931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.6782C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Pro2261Leu",
        "hgvsWellDefined": "ENSP00000426541.2:p.Pro2261Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7133,
          "referenceAllele": "C",
          "start": 7132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.6782C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Pro2261Leu",
        "hgvsWellDefined": "ENSP00000423828.3:p.Pro2261Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6841,
          "referenceAllele": "C",
          "start": 6840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.6782C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Pro2261Leu",
        "hgvsWellDefined": "ENSP00000257430.4:p.Pro2261Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.6782C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.6782C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Pro2261Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Pro2261Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6838,
          "referenceAllele": "C",
          "start": 6837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.6782C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Pro2261Leu",
        "hgvsWellDefined": "ENSP00000257430.4:p.Pro2261Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6939,
          "referenceAllele": "C",
          "start": 6938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.6782C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Pro2261Leu",
        "hgvsWellDefined": "ENSP00000427089.2:p.Pro2261Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7027,
          "referenceAllele": "C",
          "start": 7026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*6104C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*6104C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 13404,
          "referenceAllele": "C",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 13403
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.230+13404C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA166115",
      "coordinates": [
        {
          "allele": "T",
          "end": 6867,
          "referenceAllele": "C",
          "start": 6866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.6782C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Pro2261Leu",
        "hgvsWellDefined": "NP_000029.2:p.Pro2261Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA166116",
      "coordinates": [
        {
          "allele": "T",
          "end": 6975,
          "referenceAllele": "C",
          "start": 6974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.6782C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Pro2261Leu",
        "hgvsWellDefined": "NP_001120982.1:p.Pro2261Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA166114",
      "coordinates": [
        {
          "allele": "T",
          "end": 6941,
          "referenceAllele": "C",
          "start": 6940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.6728C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Pro2243Leu",
        "hgvsWellDefined": "NP_001120983.2:p.Pro2243Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827946730",
      "coordinates": [
        {
          "allele": "T",
          "end": 7178,
          "referenceAllele": "C",
          "start": 7177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.6782C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Pro2261Leu",
        "hgvsWellDefined": "NP_001341824.1:p.Pro2261Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916041169",
      "coordinates": [
        {
          "allele": "T",
          "end": 6921,
          "referenceAllele": "C",
          "start": 6920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.6836C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Pro2279Leu",
        "hgvsWellDefined": "NP_001341825.1:p.Pro2279Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827961421",
      "coordinates": [
        {
          "allele": "T",
          "end": 7025,
          "referenceAllele": "C",
          "start": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.6812C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Pro2271Leu",
        "hgvsWellDefined": "NP_001341826.1:p.Pro2271Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827970558",
      "coordinates": [
        {
          "allele": "T",
          "end": 6822,
          "referenceAllele": "C",
          "start": 6821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.6707C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Pro2236Leu",
        "hgvsWellDefined": "NP_001341827.1:p.Pro2236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827979732",
      "coordinates": [
        {
          "allele": "T",
          "end": 6783,
          "referenceAllele": "C",
          "start": 6782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.6698C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Pro2233Leu",
        "hgvsWellDefined": "NP_001341828.1:p.Pro2233Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827988809",
      "coordinates": [
        {
          "allele": "T",
          "end": 6768,
          "referenceAllele": "C",
          "start": 6767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.6659C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Pro2220Leu",
        "hgvsWellDefined": "NP_001341829.1:p.Pro2220Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827997871",
      "coordinates": [
        {
          "allele": "T",
          "end": 6714,
          "referenceAllele": "C",
          "start": 6713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.6605C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Pro2202Leu",
        "hgvsWellDefined": "NP_001341830.1:p.Pro2202Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828011252",
      "coordinates": [
        {
          "allele": "T",
          "end": 6722,
          "referenceAllele": "C",
          "start": 6721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.6509C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Pro2170Leu",
        "hgvsWellDefined": "NP_001341831.1:p.Pro2170Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828027070",
      "coordinates": [
        {
          "allele": "T",
          "end": 6564,
          "referenceAllele": "C",
          "start": 6563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.6479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Pro2160Leu",
        "hgvsWellDefined": "NP_001341832.1:p.Pro2160Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828046270",
      "coordinates": [
        {
          "allele": "T",
          "end": 6519,
          "referenceAllele": "C",
          "start": 6518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.6404C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Pro2135Leu",
        "hgvsWellDefined": "NP_001341833.1:p.Pro2135Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828010754",
      "coordinates": [
        {
          "allele": "T",
          "end": 6411,
          "referenceAllele": "C",
          "start": 6410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.6302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Pro2101Leu",
        "hgvsWellDefined": "NP_001341834.1:p.Pro2101Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828026857",
      "coordinates": [
        {
          "allele": "T",
          "end": 7053,
          "referenceAllele": "C",
          "start": 7052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.5933C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Pro1978Leu",
        "hgvsWellDefined": "NP_001341835.1:p.Pro1978Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA166115",
      "coordinates": [
        {
          "allele": "T",
          "end": 6841,
          "referenceAllele": "C",
          "start": 6840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.6782C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Pro2261Leu",
        "hgvsWellDefined": "NP_000029.2:p.Pro2261Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.6782C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.6782C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Pro2261Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Pro2261Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA166116",
      "coordinates": [
        {
          "allele": "T",
          "end": 6949,
          "referenceAllele": "C",
          "start": 6948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.6782C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Pro2261Leu",
        "hgvsWellDefined": "NP_001120982.1:p.Pro2261Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA166114",
      "coordinates": [
        {
          "allele": "T",
          "end": 6948,
          "referenceAllele": "C",
          "start": 6947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.6728C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Pro2243Leu",
        "hgvsWellDefined": "NP_001120983.2:p.Pro2243Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827946730",
      "coordinates": [
        {
          "allele": "T",
          "end": 7185,
          "referenceAllele": "C",
          "start": 7184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.6782C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Pro2261Leu",
        "hgvsWellDefined": "NP_001341824.1:p.Pro2261Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916041169",
      "coordinates": [
        {
          "allele": "T",
          "end": 6895,
          "referenceAllele": "C",
          "start": 6894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.6836C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Pro2279Leu",
        "hgvsWellDefined": "NP_001341825.1:p.Pro2279Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827961421",
      "coordinates": [
        {
          "allele": "T",
          "end": 7032,
          "referenceAllele": "C",
          "start": 7031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.6812C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Pro2271Leu",
        "hgvsWellDefined": "NP_001341826.1:p.Pro2271Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827970558",
      "coordinates": [
        {
          "allele": "T",
          "end": 6796,
          "referenceAllele": "C",
          "start": 6795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.6707C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Pro2236Leu",
        "hgvsWellDefined": "NP_001341827.1:p.Pro2236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827979732",
      "coordinates": [
        {
          "allele": "T",
          "end": 6757,
          "referenceAllele": "C",
          "start": 6756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.6698C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Pro2233Leu",
        "hgvsWellDefined": "NP_001341828.1:p.Pro2233Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827988809",
      "coordinates": [
        {
          "allele": "T",
          "end": 6742,
          "referenceAllele": "C",
          "start": 6741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.6659C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Pro2220Leu",
        "hgvsWellDefined": "NP_001341829.1:p.Pro2220Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827997871",
      "coordinates": [
        {
          "allele": "T",
          "end": 6688,
          "referenceAllele": "C",
          "start": 6687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.6605C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Pro2202Leu",
        "hgvsWellDefined": "NP_001341830.1:p.Pro2202Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828011252",
      "coordinates": [
        {
          "allele": "T",
          "end": 6729,
          "referenceAllele": "C",
          "start": 6728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.6509C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Pro2170Leu",
        "hgvsWellDefined": "NP_001341831.1:p.Pro2170Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828027070",
      "coordinates": [
        {
          "allele": "T",
          "end": 6538,
          "referenceAllele": "C",
          "start": 6537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.6479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Pro2160Leu",
        "hgvsWellDefined": "NP_001341832.1:p.Pro2160Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828046270",
      "coordinates": [
        {
          "allele": "T",
          "end": 6493,
          "referenceAllele": "C",
          "start": 6492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.6404C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Pro2135Leu",
        "hgvsWellDefined": "NP_001341833.1:p.Pro2135Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828010754",
      "coordinates": [
        {
          "allele": "T",
          "end": 6385,
          "referenceAllele": "C",
          "start": 6384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.6302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Pro2101Leu",
        "hgvsWellDefined": "NP_001341834.1:p.Pro2101Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828026857",
      "coordinates": [
        {
          "allele": "T",
          "end": 7027,
          "referenceAllele": "C",
          "start": 7026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.5933C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Pro1978Leu",
        "hgvsWellDefined": "NP_001341835.1:p.Pro1978Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}