{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA461836136",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.2260A>C (p.Arg754=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1304332[alleleid]",
        "alleleId": 1304332,
        "preferredName": "NM_002485.5(NBN):c.2260A>C (p.Arg754=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1314071",
        "RCV": [
          "RCV001771302",
          "RCV002540531"
        ],
        "variationId": 1314071
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90947815T>G?assembly=hg19",
        "id": "chr8:g.90947815T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2130735641",
        "rs": 2130735641
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 89935587,
          "referenceAllele": "T",
          "start": 89935586
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89935587T>G",
        "CM000670.2:g.89935587T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 90947815,
          "referenceAllele": "T",
          "start": 90947814
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90947815T>G",
        "CM000670.1:g.90947815T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 91016991,
          "referenceAllele": "T",
          "start": 91016990
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91016991T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54085,
          "referenceAllele": "A",
          "start": 54084
        }
      ],
      "hgvs": [
        "NG_008860.1:g.54085A>C",
        "LRG_158:g.54085A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3680,
          "referenceAllele": "A",
          "start": 3679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000474821.2:n.3680A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3562,
          "referenceAllele": "A",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.3562A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2308,
          "referenceAllele": "A",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.2014A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Arg672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2473,
          "referenceAllele": "A",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.2014A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Arg672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2381,
          "referenceAllele": "A",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.2260A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Arg754="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2421,
          "referenceAllele": "A",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.2311A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Arg771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2346,
          "referenceAllele": "A",
          "start": 2345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*1871A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*1871A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1800,
          "referenceAllele": "A",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*1569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*1569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2215,
          "referenceAllele": "A",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*1928A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*1928A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4045,
          "referenceAllele": "A",
          "start": 4044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.4045A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2599,
          "referenceAllele": "A",
          "start": 2598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.2014A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Arg672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2232,
          "referenceAllele": "A",
          "start": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.2014A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Arg672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2506,
          "referenceAllele": "A",
          "start": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*1864A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*1864A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2375,
          "referenceAllele": "A",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*1781A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*1781A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2325,
          "referenceAllele": "A",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*1781A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*1781A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2456,
          "referenceAllele": "A",
          "start": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*1864A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*1864A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "A",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.1948A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Arg650="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2527,
          "referenceAllele": "A",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697305.1:n.2527A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3403,
          "referenceAllele": "A",
          "start": 3402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*2811A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*2811A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2145,
          "referenceAllele": "A",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.2035A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Arg679="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2301,
          "referenceAllele": "A",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.2191A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Arg731="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2320,
          "referenceAllele": "A",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.2210A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Lys737Thr",
        "hgvsWellDefined": "ENSP00000513244.1:p.Lys737Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2381,
          "referenceAllele": "A",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.2260A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Arg754="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "A",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.*525A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:n.*525A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2317,
          "referenceAllele": "A",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*1713A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*1713A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2713,
          "referenceAllele": "A",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2713A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3662,
          "referenceAllele": "A",
          "start": 3661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3662A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2479,
          "referenceAllele": "A",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.*164A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:n.*164A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2366,
          "referenceAllele": "A",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.2260A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Arg754="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.2260A>C"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.2260A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Arg754="
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Arg754="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2415,
          "referenceAllele": "A",
          "start": 2414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.2260A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Arg754="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2656,
          "referenceAllele": "A",
          "start": 2655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*2133A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*2133A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2420,
          "referenceAllele": "A",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.2014A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Arg672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 348,
          "referenceAllele": "A",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000474821.1:n.348A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316239"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000613033.1:c.370A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484487.1:p.Arg124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825336021",
      "coordinates": [
        {
          "allele": "C",
          "end": 2473,
          "referenceAllele": "A",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.2014A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Arg672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829403989",
      "coordinates": [
        {
          "allele": "C",
          "end": 2370,
          "referenceAllele": "A",
          "start": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.2260A>C",
        "LRG_158t1:c.2260A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Arg754="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2251,
          "referenceAllele": "A",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.2236A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Arg746="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2303,
          "referenceAllele": "A",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.2014A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Arg672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11827,
          "referenceAllele": "T",
          "start": 11826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001355",
      "geneNCBI_id": 734,
      "geneSymbol": "OSGIN2",
      "hgvs": [
        "XM_011517287.3:c.*10055T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515589.1:n.*10055T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544489"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11652,
          "referenceAllele": "T",
          "start": 11651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001355",
      "geneNCBI_id": 734,
      "geneSymbol": "OSGIN2",
      "hgvs": [
        "XM_011517288.3:c.*10055T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515590.1:n.*10055T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2454,
          "referenceAllele": "A",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.1381A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Arg461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2315,
          "referenceAllele": "A",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.1381A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Arg461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2400,
          "referenceAllele": "A",
          "start": 2399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.2014A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Arg672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2396,
          "referenceAllele": "A",
          "start": 2395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.2014A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Arg672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2445,
          "referenceAllele": "A",
          "start": 2444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.1381A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Arg461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829403989",
      "coordinates": [
        {
          "allele": "C",
          "end": 2366,
          "referenceAllele": "A",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.2260A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Arg754="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.2260A>C"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.2260A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Arg754="
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Arg754="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825336021",
      "coordinates": [
        {
          "allele": "C",
          "end": 2416,
          "referenceAllele": "A",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.2014A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Arg672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}