{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16038647",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.7973G>C (p.Trp2658Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4869612[alleleid]",
        "alleleId": 4869612,
        "preferredName": "NM_000038.6(APC):c.7973G>C (p.Trp2658Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4758279",
        "RCV": [
          "RCV006549740"
        ],
        "variationId": 4758279
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112179264G>C?assembly=hg19",
        "id": "chr5:g.112179264G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112843567G>C?assembly=hg38",
        "id": "chr5:g.112843567G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/79619757",
        "rs": 79619757
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112843567-G-C?dataset=gnomad_r4",
        "id": "5-112843567-G-C",
        "variant": "5:112843567 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 112843567,
          "referenceAllele": "G",
          "start": 112843566
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112843567G>C",
        "CM000667.2:g.112843567G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 112179264,
          "referenceAllele": "G",
          "start": 112179263
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112179264G>C",
        "CM000667.1:g.112179264G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 112207163,
          "referenceAllele": "G",
          "start": 112207162
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112207163G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 156047,
          "referenceAllele": "G",
          "start": 156046
        }
      ],
      "hgvs": [
        "NG_008481.4:g.156047G>C",
        "LRG_130:g.156047G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8083,
          "referenceAllele": "G",
          "start": 8082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.8027G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Trp2676Ser",
        "hgvsWellDefined": "ENSP00000473355.2:p.Trp2676Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8353,
          "referenceAllele": "G",
          "start": 8352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*7979G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*7979G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8115,
          "referenceAllele": "G",
          "start": 8114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.7919G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Trp2640Ser",
        "hgvsWellDefined": "ENSP00000423224.2:p.Trp2640Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8123,
          "referenceAllele": "G",
          "start": 8122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.7973G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Trp2658Ser",
        "hgvsWellDefined": "ENSP00000426541.2:p.Trp2658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8324,
          "referenceAllele": "G",
          "start": 8323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.7973G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Trp2658Ser",
        "hgvsWellDefined": "ENSP00000423828.3:p.Trp2658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8032,
          "referenceAllele": "G",
          "start": 8031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.7973G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Trp2658Ser",
        "hgvsWellDefined": "ENSP00000257430.4:p.Trp2658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.7973G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.7973G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Trp2658Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Trp2658Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8029,
          "referenceAllele": "G",
          "start": 8028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.7973G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Trp2658Ser",
        "hgvsWellDefined": "ENSP00000257430.4:p.Trp2658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8130,
          "referenceAllele": "G",
          "start": 8129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.7973G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Trp2658Ser",
        "hgvsWellDefined": "ENSP00000427089.2:p.Trp2658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 230,
          "endIntronDirection": "-",
          "endIntronOffset": 13081,
          "referenceAllele": "G",
          "start": 230,
          "startIntronDirection": "-",
          "startIntronOffset": 13082
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.231-13082G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070943779",
      "coordinates": [
        {
          "allele": "C",
          "end": 8058,
          "referenceAllele": "G",
          "start": 8057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.7973G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Trp2658Ser",
        "hgvsWellDefined": "NP_000029.2:p.Trp2658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8166,
          "referenceAllele": "G",
          "start": 8165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.7973G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Trp2658Ser",
        "hgvsWellDefined": "NP_001120982.1:p.Trp2658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8132,
          "referenceAllele": "G",
          "start": 8131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.7919G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Trp2640Ser",
        "hgvsWellDefined": "NP_001120983.2:p.Trp2640Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8369,
          "referenceAllele": "G",
          "start": 8368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.7973G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Trp2658Ser",
        "hgvsWellDefined": "NP_001341824.1:p.Trp2658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8112,
          "referenceAllele": "G",
          "start": 8111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.8027G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Trp2676Ser",
        "hgvsWellDefined": "NP_001341825.1:p.Trp2676Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8216,
          "referenceAllele": "G",
          "start": 8215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.8003G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Trp2668Ser",
        "hgvsWellDefined": "NP_001341826.1:p.Trp2668Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8013,
          "referenceAllele": "G",
          "start": 8012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.7898G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Trp2633Ser",
        "hgvsWellDefined": "NP_001341827.1:p.Trp2633Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7974,
          "referenceAllele": "G",
          "start": 7973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.7889G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Trp2630Ser",
        "hgvsWellDefined": "NP_001341828.1:p.Trp2630Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7959,
          "referenceAllele": "G",
          "start": 7958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.7850G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Trp2617Ser",
        "hgvsWellDefined": "NP_001341829.1:p.Trp2617Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7905,
          "referenceAllele": "G",
          "start": 7904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.7796G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Trp2599Ser",
        "hgvsWellDefined": "NP_001341830.1:p.Trp2599Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7913,
          "referenceAllele": "G",
          "start": 7912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.7700G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Trp2567Ser",
        "hgvsWellDefined": "NP_001341831.1:p.Trp2567Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7755,
          "referenceAllele": "G",
          "start": 7754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.7670G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Trp2557Ser",
        "hgvsWellDefined": "NP_001341832.1:p.Trp2557Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7710,
          "referenceAllele": "G",
          "start": 7709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.7595G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Trp2532Ser",
        "hgvsWellDefined": "NP_001341833.1:p.Trp2532Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7602,
          "referenceAllele": "G",
          "start": 7601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.7493G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Trp2498Ser",
        "hgvsWellDefined": "NP_001341834.1:p.Trp2498Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8244,
          "referenceAllele": "G",
          "start": 8243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.7124G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Trp2375Ser",
        "hgvsWellDefined": "NP_001341835.1:p.Trp2375Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070943779",
      "coordinates": [
        {
          "allele": "C",
          "end": 8032,
          "referenceAllele": "G",
          "start": 8031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.7973G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Trp2658Ser",
        "hgvsWellDefined": "NP_000029.2:p.Trp2658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.7973G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.7973G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Trp2658Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Trp2658Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8140,
          "referenceAllele": "G",
          "start": 8139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.7973G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Trp2658Ser",
        "hgvsWellDefined": "NP_001120982.1:p.Trp2658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8139,
          "referenceAllele": "G",
          "start": 8138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.7919G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Trp2640Ser",
        "hgvsWellDefined": "NP_001120983.2:p.Trp2640Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8376,
          "referenceAllele": "G",
          "start": 8375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.7973G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Trp2658Ser",
        "hgvsWellDefined": "NP_001341824.1:p.Trp2658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8086,
          "referenceAllele": "G",
          "start": 8085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.8027G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Trp2676Ser",
        "hgvsWellDefined": "NP_001341825.1:p.Trp2676Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8223,
          "referenceAllele": "G",
          "start": 8222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.8003G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Trp2668Ser",
        "hgvsWellDefined": "NP_001341826.1:p.Trp2668Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7987,
          "referenceAllele": "G",
          "start": 7986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.7898G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Trp2633Ser",
        "hgvsWellDefined": "NP_001341827.1:p.Trp2633Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7948,
          "referenceAllele": "G",
          "start": 7947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.7889G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Trp2630Ser",
        "hgvsWellDefined": "NP_001341828.1:p.Trp2630Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7933,
          "referenceAllele": "G",
          "start": 7932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.7850G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Trp2617Ser",
        "hgvsWellDefined": "NP_001341829.1:p.Trp2617Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7879,
          "referenceAllele": "G",
          "start": 7878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.7796G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Trp2599Ser",
        "hgvsWellDefined": "NP_001341830.1:p.Trp2599Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7920,
          "referenceAllele": "G",
          "start": 7919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.7700G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Trp2567Ser",
        "hgvsWellDefined": "NP_001341831.1:p.Trp2567Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7729,
          "referenceAllele": "G",
          "start": 7728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.7670G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Trp2557Ser",
        "hgvsWellDefined": "NP_001341832.1:p.Trp2557Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7684,
          "referenceAllele": "G",
          "start": 7683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.7595G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Trp2532Ser",
        "hgvsWellDefined": "NP_001341833.1:p.Trp2532Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7576,
          "referenceAllele": "G",
          "start": 7575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.7493G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Trp2498Ser",
        "hgvsWellDefined": "NP_001341834.1:p.Trp2498Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8218,
          "referenceAllele": "G",
          "start": 8217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.7124G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Trp2375Ser",
        "hgvsWellDefined": "NP_001341835.1:p.Trp2375Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}