{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA012417",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.669A>C (p.Gln223His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=182328[alleleid]",
        "alleleId": 182328,
        "preferredName": "NM_000038.6(APC):c.669A>C (p.Gln223His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/184601",
        "RCV": [
          "RCV000163884",
          "RCV000411931",
          "RCV001358755",
          "RCV002228581",
          "RCV003126560",
          "RCV003995293"
        ],
        "variationId": 184601
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112128166-A-C",
        "id": "5-112128166-A-C",
        "variant": "5:112128166 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112128166A>C?assembly=hg19",
        "id": "chr5:g.112128166A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112792469A>C?assembly=hg38",
        "id": "chr5:g.112792469A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769482880",
        "rs": 769482880
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112128166-A-C?dataset=gnomad_r2_1",
        "id": "5-112128166-A-C",
        "variant": "5:112128166 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112792469-A-C?dataset=gnomad_r3",
        "id": "5-112792469-A-C",
        "variant": "5:112792469 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112792469-A-C?dataset=gnomad_r4",
        "id": "5-112792469-A-C",
        "variant": "5:112792469 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 112792469,
          "referenceAllele": "A",
          "start": 112792468
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112792469A>C",
        "CM000667.2:g.112792469A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 112128166,
          "referenceAllele": "A",
          "start": 112128165
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112128166A>C",
        "CM000667.1:g.112128166A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 112156065,
          "referenceAllele": "A",
          "start": 112156064
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112156065A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104949,
          "referenceAllele": "A",
          "start": 104948
        }
      ],
      "hgvs": [
        "NG_008481.4:g.104949A>C",
        "LRG_130:g.104949A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 669,
          "referenceAllele": "A",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:p.Gln223His",
        "hgvsWellDefined": "ENSP00000484935.2:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 725,
          "referenceAllele": "A",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Gln223His",
        "hgvsWellDefined": "ENSP00000473355.2:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 725,
          "referenceAllele": "A",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505084.2:n.725A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1049,
          "referenceAllele": "A",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*675A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*675A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "endIntronDirection": "-",
          "endIntronOffset": 8809,
          "referenceAllele": "A",
          "start": 871,
          "startIntronDirection": "-",
          "startIntronOffset": 8810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.676-8810A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:n.676-8810A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "A",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Gln223His",
        "hgvsWellDefined": "ENSP00000426541.2:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Gln223His",
        "hgvsWellDefined": "ENSP00000423828.3:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "referenceAllele": "A",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Gln223His",
        "hgvsWellDefined": "ENSP00000257430.4:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.669A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.669A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Gln223His"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Gln223His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 725,
          "referenceAllele": "A",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Gln223His",
        "hgvsWellDefined": "ENSP00000257430.4:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "endIntronDirection": "-",
          "endIntronOffset": 8809,
          "referenceAllele": "A",
          "start": 871,
          "startIntronDirection": "-",
          "startIntronOffset": 8810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.676-8810A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:n.676-8810A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 826,
          "referenceAllele": "A",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Gln223His",
        "hgvsWellDefined": "ENSP00000427089.2:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "referenceAllele": "A",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:p.Gln223His",
        "hgvsWellDefined": "ENSP00000424265.1:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 816,
          "referenceAllele": "A",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.Gln223His",
        "hgvsWellDefined": "ENSP00000423828.2:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA189432",
      "coordinates": [
        {
          "allele": "C",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Gln223His",
        "hgvsWellDefined": "NP_000029.2:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA189433",
      "coordinates": [
        {
          "allele": "C",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Gln223His",
        "hgvsWellDefined": "NP_001120982.1:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 888,
          "endIntronDirection": "-",
          "endIntronOffset": 8809,
          "referenceAllele": "A",
          "start": 888,
          "startIntronDirection": "-",
          "startIntronOffset": 8810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.676-8810A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:n.676-8810A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827940135",
      "coordinates": [
        {
          "allele": "C",
          "end": 1065,
          "referenceAllele": "A",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Gln223His",
        "hgvsWellDefined": "NP_001341824.1:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827949324",
      "coordinates": [
        {
          "allele": "C",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Gln223His",
        "hgvsWellDefined": "NP_001341825.1:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827954997",
      "coordinates": [
        {
          "allele": "C",
          "end": 912,
          "referenceAllele": "A",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.699A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Gln233His",
        "hgvsWellDefined": "NP_001341826.1:p.Gln233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827963964",
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "referenceAllele": "A",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.594A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Gln198His",
        "hgvsWellDefined": "NP_001341827.1:p.Gln198His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 730,
          "endIntronDirection": "-",
          "endIntronOffset": 8809,
          "referenceAllele": "A",
          "start": 730,
          "startIntronDirection": "-",
          "startIntronOffset": 8810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.646-8810A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:n.646-8810A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827982220",
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "A",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.492A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Gln164His",
        "hgvsWellDefined": "NP_001341829.1:p.Gln164His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827991299",
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "A",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.492A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Gln164His",
        "hgvsWellDefined": "NP_001341830.1:p.Gln164His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916042167",
      "coordinates": [
        {
          "allele": "C",
          "end": 912,
          "referenceAllele": "A",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.699A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Gln233His",
        "hgvsWellDefined": "NP_001341831.1:p.Gln233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828014720",
      "coordinates": [
        {
          "allele": "C",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Gln223His",
        "hgvsWellDefined": "NP_001341832.1:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828031817",
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "referenceAllele": "A",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.594A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Gln198His",
        "hgvsWellDefined": "NP_001341833.1:p.Gln198His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828051182",
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "A",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.492A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Gln164His",
        "hgvsWellDefined": "NP_001341834.1:p.Gln164His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.-367A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:n.-367A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA189432",
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "referenceAllele": "A",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Gln223His",
        "hgvsWellDefined": "NP_000029.2:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.669A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.669A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Gln223His"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Gln223His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA189433",
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "referenceAllele": "A",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Gln223His",
        "hgvsWellDefined": "NP_001120982.1:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 895,
          "endIntronDirection": "-",
          "endIntronOffset": 8809,
          "referenceAllele": "A",
          "start": 895,
          "startIntronDirection": "-",
          "startIntronOffset": 8810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.676-8810A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:n.676-8810A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827940135",
      "coordinates": [
        {
          "allele": "C",
          "end": 1072,
          "referenceAllele": "A",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Gln223His",
        "hgvsWellDefined": "NP_001341824.1:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827949324",
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "referenceAllele": "A",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Gln223His",
        "hgvsWellDefined": "NP_001341825.1:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827954997",
      "coordinates": [
        {
          "allele": "C",
          "end": 919,
          "referenceAllele": "A",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.699A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Gln233His",
        "hgvsWellDefined": "NP_001341826.1:p.Gln233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827963964",
      "coordinates": [
        {
          "allele": "C",
          "end": 683,
          "referenceAllele": "A",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.594A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Gln198His",
        "hgvsWellDefined": "NP_001341827.1:p.Gln198His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 704,
          "endIntronDirection": "-",
          "endIntronOffset": 8809,
          "referenceAllele": "A",
          "start": 704,
          "startIntronDirection": "-",
          "startIntronOffset": 8810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.646-8810A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:n.646-8810A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827982220",
      "coordinates": [
        {
          "allele": "C",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.492A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Gln164His",
        "hgvsWellDefined": "NP_001341829.1:p.Gln164His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827991299",
      "coordinates": [
        {
          "allele": "C",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.492A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Gln164His",
        "hgvsWellDefined": "NP_001341830.1:p.Gln164His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916042167",
      "coordinates": [
        {
          "allele": "C",
          "end": 919,
          "referenceAllele": "A",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.699A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Gln233His",
        "hgvsWellDefined": "NP_001341831.1:p.Gln233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828014720",
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "referenceAllele": "A",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.669A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Gln223His",
        "hgvsWellDefined": "NP_001341832.1:p.Gln223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828031817",
      "coordinates": [
        {
          "allele": "C",
          "end": 683,
          "referenceAllele": "A",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.594A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Gln198His",
        "hgvsWellDefined": "NP_001341833.1:p.Gln198His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828051182",
      "coordinates": [
        {
          "allele": "C",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.492A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Gln164His",
        "hgvsWellDefined": "NP_001341834.1:p.Gln164His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "referenceAllele": "A",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.-367A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:n.-367A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}