{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1865469130",
  "communityStandardTitle": [
    "NM_000136.3(FANCC):c.535C= (p.Arg179=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769039987",
        "rs": 769039987
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 95150074,
          "referenceAllele": "G",
          "start": 95150073
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95150074G=",
        "CM000671.2:g.95150074G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 97912356,
          "referenceAllele": "G",
          "start": 97912355
        }
      ],
      "hgvs": [
        "NC_000009.11:g.97912356G=",
        "CM000671.1:g.97912356G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 96952177,
          "referenceAllele": "G",
          "start": 96952176
        }
      ],
      "hgvs": [
        "NC_000009.10:g.96952177G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 172636,
          "referenceAllele": "C",
          "start": 172635
        }
      ],
      "hgvs": [
        "NG_011707.1:g.172636C=",
        "LRG_497:g.172636C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001916"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3274,
          "referenceAllele": "G",
          "start": 3273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001361",
      "geneNCBI_id": 84909,
      "geneSymbol": "AOPEP",
      "hgvs": [
        "ENST00000710812.1:n.3274G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 926,
          "referenceAllele": "C",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000696261.1:n.926C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000289081.8:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289081.3:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.535C="
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.535C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:p.Arg179="
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:p.Arg179="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000375305.6:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364454.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751590"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000490972.7:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479931.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000636777.1:n.593C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763373"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000649334.1:c.680C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497735.1:n.680C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "C",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000649701.1:n.250C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000289081.7:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289081.3:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "referenceAllele": "C",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000375305.5:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364454.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000490972.6:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479931.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825055475",
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.2:c.535C=",
        "LRG_497t1:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006198"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826329839",
      "coordinates": [
        {
          "allele": "C",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.1:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826333180",
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.1:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 783,
          "endIntronDirection": "-",
          "endIntronOffset": 14571,
          "referenceAllele": "C",
          "start": 783,
          "startIntronDirection": "-",
          "startIntronOffset": 14572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717001.1:c.522-14572C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717064.1:n.522-14572C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717002.2:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717065.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717004.2:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717067.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518365.1:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516667.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518366.1:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516668.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518367.1:c.79C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516669.1:p.Arg27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 783,
          "endIntronDirection": "-",
          "endIntronOffset": 14571,
          "referenceAllele": "C",
          "start": 783,
          "startIntronDirection": "-",
          "startIntronOffset": 14572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717001.3:c.522-14572C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717064.1:n.522-14572C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717002.4:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717065.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717004.4:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717067.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2606,
          "referenceAllele": "C",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518365.3:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516667.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518366.3:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516668.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544882"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 909,
          "referenceAllele": "C",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518367.2:c.79C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516669.1:p.Arg27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 926,
          "referenceAllele": "C",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014452.2:c.79C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869941.1:p.Arg27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "C",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014453.1:c.79C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869942.1:p.Arg27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 949,
          "endIntronDirection": "-",
          "endIntronOffset": 14571,
          "referenceAllele": "C",
          "start": 949,
          "startIntronDirection": "-",
          "startIntronOffset": 14572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014454.1:c.66-14572C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869943.1:n.66-14572C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 771,
          "referenceAllele": "C",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_024447451.1:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303219.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825055475",
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.3:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674720",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.535C="
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.535C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:p.Arg179="
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:p.Arg179="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826329839",
      "coordinates": [
        {
          "allele": "C",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.2:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826333180",
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.2:c.535C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714505"
    }
  ],
  "type": "nucleotide"
}