{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA013717",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137261[alleleid]",
        "alleleId": 137261,
        "preferredName": "NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133522",
        "RCV": [
          "RCV000120032",
          "RCV000131590",
          "RCV000587624",
          "RCV001153055",
          "RCV003323291"
        ],
        "variationId": 133522
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112178781-C-T",
        "id": "5-112178781-C-T",
        "variant": "5:112178781 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112178781C>T?assembly=hg19",
        "id": "chr5:g.112178781C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112843084C>T?assembly=hg38",
        "id": "chr5:g.112843084C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141010008",
        "rs": 141010008
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112178781-C-T?dataset=gnomad_r2_1",
        "id": "5-112178781-C-T",
        "variant": "5:112178781 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112843084-C-T?dataset=gnomad_r3",
        "id": "5-112843084-C-T",
        "variant": "5:112843084 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112843084-C-T?dataset=gnomad_r4",
        "id": "5-112843084-C-T",
        "variant": "5:112843084 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112843084,
          "referenceAllele": "C",
          "start": 112843083
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112843084C>T",
        "CM000667.2:g.112843084C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112178781,
          "referenceAllele": "C",
          "start": 112178780
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112178781C>T",
        "CM000667.1:g.112178781C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 112206680,
          "referenceAllele": "C",
          "start": 112206679
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112206680C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 155564,
          "referenceAllele": "C",
          "start": 155563
        }
      ],
      "hgvs": [
        "NG_008481.4:g.155564C>T",
        "LRG_130:g.155564C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7600,
          "referenceAllele": "C",
          "start": 7599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.7544C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Ser2515Leu",
        "hgvsWellDefined": "ENSP00000473355.2:p.Ser2515Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7870,
          "referenceAllele": "C",
          "start": 7869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*7496C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*7496C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7632,
          "referenceAllele": "C",
          "start": 7631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.7436C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Ser2479Leu",
        "hgvsWellDefined": "ENSP00000423224.2:p.Ser2479Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7640,
          "referenceAllele": "C",
          "start": 7639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.7490C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Ser2497Leu",
        "hgvsWellDefined": "ENSP00000426541.2:p.Ser2497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7841,
          "referenceAllele": "C",
          "start": 7840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.7490C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Ser2497Leu",
        "hgvsWellDefined": "ENSP00000423828.3:p.Ser2497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7549,
          "referenceAllele": "C",
          "start": 7548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.7490C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ser2497Leu",
        "hgvsWellDefined": "ENSP00000257430.4:p.Ser2497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.7490C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.7490C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ser2497Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ser2497Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7546,
          "referenceAllele": "C",
          "start": 7545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.7490C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ser2497Leu",
        "hgvsWellDefined": "ENSP00000257430.4:p.Ser2497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7647,
          "referenceAllele": "C",
          "start": 7646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.7490C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Ser2497Leu",
        "hgvsWellDefined": "ENSP00000427089.2:p.Ser2497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "endIntronDirection": "-",
          "endIntronOffset": 13564,
          "referenceAllele": "C",
          "start": 230,
          "startIntronDirection": "-",
          "startIntronOffset": 13565
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.231-13565C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA156807",
      "coordinates": [
        {
          "allele": "T",
          "end": 7575,
          "referenceAllele": "C",
          "start": 7574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.7490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ser2497Leu",
        "hgvsWellDefined": "NP_000029.2:p.Ser2497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA156808",
      "coordinates": [
        {
          "allele": "T",
          "end": 7683,
          "referenceAllele": "C",
          "start": 7682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.7490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ser2497Leu",
        "hgvsWellDefined": "NP_001120982.1:p.Ser2497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA156806",
      "coordinates": [
        {
          "allele": "T",
          "end": 7649,
          "referenceAllele": "C",
          "start": 7648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.7436C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ser2479Leu",
        "hgvsWellDefined": "NP_001120983.2:p.Ser2479Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827947521",
      "coordinates": [
        {
          "allele": "T",
          "end": 7886,
          "referenceAllele": "C",
          "start": 7885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.7490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ser2497Leu",
        "hgvsWellDefined": "NP_001341824.1:p.Ser2497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916041467",
      "coordinates": [
        {
          "allele": "T",
          "end": 7629,
          "referenceAllele": "C",
          "start": 7628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.7544C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ser2515Leu",
        "hgvsWellDefined": "NP_001341825.1:p.Ser2515Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827962209",
      "coordinates": [
        {
          "allele": "T",
          "end": 7733,
          "referenceAllele": "C",
          "start": 7732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.7520C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ser2507Leu",
        "hgvsWellDefined": "NP_001341826.1:p.Ser2507Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827971344",
      "coordinates": [
        {
          "allele": "T",
          "end": 7530,
          "referenceAllele": "C",
          "start": 7529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.7415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ser2472Leu",
        "hgvsWellDefined": "NP_001341827.1:p.Ser2472Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827980520",
      "coordinates": [
        {
          "allele": "T",
          "end": 7491,
          "referenceAllele": "C",
          "start": 7490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.7406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ser2469Leu",
        "hgvsWellDefined": "NP_001341828.1:p.Ser2469Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827989597",
      "coordinates": [
        {
          "allele": "T",
          "end": 7476,
          "referenceAllele": "C",
          "start": 7475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.7367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ser2456Leu",
        "hgvsWellDefined": "NP_001341829.1:p.Ser2456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827998661",
      "coordinates": [
        {
          "allele": "T",
          "end": 7422,
          "referenceAllele": "C",
          "start": 7421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.7313C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ser2438Leu",
        "hgvsWellDefined": "NP_001341830.1:p.Ser2438Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828012112",
      "coordinates": [
        {
          "allele": "T",
          "end": 7430,
          "referenceAllele": "C",
          "start": 7429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.7217C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ser2406Leu",
        "hgvsWellDefined": "NP_001341831.1:p.Ser2406Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828028598",
      "coordinates": [
        {
          "allele": "T",
          "end": 7272,
          "referenceAllele": "C",
          "start": 7271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.7187C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ser2396Leu",
        "hgvsWellDefined": "NP_001341832.1:p.Ser2396Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828047851",
      "coordinates": [
        {
          "allele": "T",
          "end": 7227,
          "referenceAllele": "C",
          "start": 7226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.7112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ser2371Leu",
        "hgvsWellDefined": "NP_001341833.1:p.Ser2371Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828012344",
      "coordinates": [
        {
          "allele": "T",
          "end": 7119,
          "referenceAllele": "C",
          "start": 7118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.7010C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ser2337Leu",
        "hgvsWellDefined": "NP_001341834.1:p.Ser2337Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828028481",
      "coordinates": [
        {
          "allele": "T",
          "end": 7761,
          "referenceAllele": "C",
          "start": 7760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.6641C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ser2214Leu",
        "hgvsWellDefined": "NP_001341835.1:p.Ser2214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA156807",
      "coordinates": [
        {
          "allele": "T",
          "end": 7549,
          "referenceAllele": "C",
          "start": 7548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.7490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ser2497Leu",
        "hgvsWellDefined": "NP_000029.2:p.Ser2497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.7490C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.7490C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ser2497Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ser2497Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA156808",
      "coordinates": [
        {
          "allele": "T",
          "end": 7657,
          "referenceAllele": "C",
          "start": 7656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.7490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ser2497Leu",
        "hgvsWellDefined": "NP_001120982.1:p.Ser2497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA156806",
      "coordinates": [
        {
          "allele": "T",
          "end": 7656,
          "referenceAllele": "C",
          "start": 7655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.7436C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ser2479Leu",
        "hgvsWellDefined": "NP_001120983.2:p.Ser2479Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827947521",
      "coordinates": [
        {
          "allele": "T",
          "end": 7893,
          "referenceAllele": "C",
          "start": 7892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.7490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ser2497Leu",
        "hgvsWellDefined": "NP_001341824.1:p.Ser2497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916041467",
      "coordinates": [
        {
          "allele": "T",
          "end": 7603,
          "referenceAllele": "C",
          "start": 7602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.7544C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ser2515Leu",
        "hgvsWellDefined": "NP_001341825.1:p.Ser2515Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827962209",
      "coordinates": [
        {
          "allele": "T",
          "end": 7740,
          "referenceAllele": "C",
          "start": 7739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.7520C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ser2507Leu",
        "hgvsWellDefined": "NP_001341826.1:p.Ser2507Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827971344",
      "coordinates": [
        {
          "allele": "T",
          "end": 7504,
          "referenceAllele": "C",
          "start": 7503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.7415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ser2472Leu",
        "hgvsWellDefined": "NP_001341827.1:p.Ser2472Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827980520",
      "coordinates": [
        {
          "allele": "T",
          "end": 7465,
          "referenceAllele": "C",
          "start": 7464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.7406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ser2469Leu",
        "hgvsWellDefined": "NP_001341828.1:p.Ser2469Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827989597",
      "coordinates": [
        {
          "allele": "T",
          "end": 7450,
          "referenceAllele": "C",
          "start": 7449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.7367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ser2456Leu",
        "hgvsWellDefined": "NP_001341829.1:p.Ser2456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827998661",
      "coordinates": [
        {
          "allele": "T",
          "end": 7396,
          "referenceAllele": "C",
          "start": 7395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.7313C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ser2438Leu",
        "hgvsWellDefined": "NP_001341830.1:p.Ser2438Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828012112",
      "coordinates": [
        {
          "allele": "T",
          "end": 7437,
          "referenceAllele": "C",
          "start": 7436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.7217C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ser2406Leu",
        "hgvsWellDefined": "NP_001341831.1:p.Ser2406Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828028598",
      "coordinates": [
        {
          "allele": "T",
          "end": 7246,
          "referenceAllele": "C",
          "start": 7245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.7187C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ser2396Leu",
        "hgvsWellDefined": "NP_001341832.1:p.Ser2396Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828047851",
      "coordinates": [
        {
          "allele": "T",
          "end": 7201,
          "referenceAllele": "C",
          "start": 7200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.7112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ser2371Leu",
        "hgvsWellDefined": "NP_001341833.1:p.Ser2371Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828012344",
      "coordinates": [
        {
          "allele": "T",
          "end": 7093,
          "referenceAllele": "C",
          "start": 7092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.7010C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ser2337Leu",
        "hgvsWellDefined": "NP_001341834.1:p.Ser2337Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828028481",
      "coordinates": [
        {
          "allele": "T",
          "end": 7735,
          "referenceAllele": "C",
          "start": 7734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.6641C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ser2214Leu",
        "hgvsWellDefined": "NP_001341835.1:p.Ser2214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}