{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374338536",
  "communityStandardTitle": [
    "NM_000136.3(FANCC):c.521+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1799705[alleleid]",
        "alleleId": 1799705,
        "preferredName": "NM_000136.3(FANCC):c.521+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1746108",
        "RCV": [
          "RCV002340782"
        ],
        "variationId": 1746108
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.97933360C>A?assembly=hg19",
        "id": "chr9:g.97933360C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95171078C>A?assembly=hg38",
        "id": "chr9:g.95171078C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145394391",
        "rs": 145394391
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 95171078,
          "referenceAllele": "C",
          "start": 95171077
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95171078C>A",
        "CM000671.2:g.95171078C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 97933360,
          "referenceAllele": "C",
          "start": 97933359
        }
      ],
      "hgvs": [
        "NC_000009.11:g.97933360C>A",
        "CM000671.1:g.97933360C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 96973181,
          "referenceAllele": "C",
          "start": 96973180
        }
      ],
      "hgvs": [
        "NC_000009.10:g.96973181C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151632,
          "referenceAllele": "G",
          "start": 151631
        }
      ],
      "hgvs": [
        "NG_011707.1:g.151632G>T",
        "LRG_497:g.151632G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001916"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 912,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 912,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000696261.1:n.912+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000289081.8:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289081.3:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.521+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.521+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:n.521+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:n.521+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 725,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 725,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000375305.6:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364454.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 745,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000490972.7:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479931.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000636777.1:n.579+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 666,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000649334.1:c.666+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497735.1:n.666+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 236,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000649701.1:n.236+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 776,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000289081.7:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289081.3:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 696,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000375305.5:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364454.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000490972.6:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479931.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.2:c.521+1G>T",
        "LRG_497t1:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 725,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 725,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.1:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.1:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717001.1:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717064.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717002.2:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717065.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717004.2:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717067.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 758,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518365.1:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516667.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518366.1:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516668.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 841,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 841,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518367.1:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516669.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717001.3:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717064.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717002.4:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717065.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717004.4:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717067.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2592,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2592,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518365.3:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516667.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518366.3:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516668.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 895,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518367.2:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516669.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 912,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 912,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014452.2:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869941.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 857,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 857,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014453.1:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869942.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 949,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 949,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014454.1:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869943.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 757,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_024447451.1:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303219.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.3:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674720",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.521+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.521+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:n.521+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:n.521+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 725,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 725,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.2:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.2:c.521+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:n.521+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714505"
    }
  ],
  "type": "nucleotide"
}