{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4802631",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.2007C>T (p.Ser669=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=458566[alleleid]",
        "alleleId": 458566,
        "preferredName": "NM_002485.5(NBN):c.2007C>T (p.Ser669=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/461534",
        "RCV": [
          "RCV000532268",
          "RCV000582241"
        ],
        "variationId": 461534
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-90958431-G-A",
        "id": "8-90958431-G-A",
        "variant": "8:90958431 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90958431G>A?assembly=hg19",
        "id": "chr8:g.90958431G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89946203G>A?assembly=hg38",
        "id": "chr8:g.89946203G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200399787",
        "rs": 200399787
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-90958431-G-A?dataset=gnomad_r2_1",
        "id": "8-90958431-G-A",
        "variant": "8:90958431 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89946203-G-A?dataset=gnomad_r3",
        "id": "8-89946203-G-A",
        "variant": "8:89946203 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89946203-G-A?dataset=gnomad_r4",
        "id": "8-89946203-G-A",
        "variant": "8:89946203 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 89946203,
          "referenceAllele": "G",
          "start": 89946202
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89946203G>A",
        "CM000670.2:g.89946203G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 90958431,
          "referenceAllele": "G",
          "start": 90958430
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90958431G>A",
        "CM000670.1:g.90958431G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 91027607,
          "referenceAllele": "G",
          "start": 91027606
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91027607G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43469,
          "referenceAllele": "C",
          "start": 43468
        }
      ],
      "hgvs": [
        "NG_008860.1:g.43469C>T",
        "LRG_158:g.43469C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3309,
          "referenceAllele": "C",
          "start": 3308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.3309C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2055,
          "referenceAllele": "C",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Ser587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2220,
          "referenceAllele": "C",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Ser587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2128,
          "referenceAllele": "C",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.2007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Ser669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2117,
          "referenceAllele": "C",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.2007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Ser669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2093,
          "referenceAllele": "C",
          "start": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*1618C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*1618C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*1316C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*1316C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1962,
          "referenceAllele": "C",
          "start": 1961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*1675C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*1675C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3792,
          "referenceAllele": "C",
          "start": 3791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.3792C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2346,
          "referenceAllele": "C",
          "start": 2345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Ser587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1979,
          "referenceAllele": "C",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Ser587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2253,
          "referenceAllele": "C",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*1611C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2122,
          "referenceAllele": "C",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*1528C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*1528C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2072,
          "referenceAllele": "C",
          "start": 2071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*1528C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*1528C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2203,
          "referenceAllele": "C",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*1611C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1805,
          "referenceAllele": "C",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.1695C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Ser565="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3150,
          "referenceAllele": "C",
          "start": 3149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*2558C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*2558C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1955,
          "endIntronDirection": "-",
          "endIntronOffset": 2836,
          "referenceAllele": "C",
          "start": 1955,
          "startIntronDirection": "-",
          "startIntronOffset": 2837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.1846-2837C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:n.1846-2837C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2048,
          "referenceAllele": "C",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.1938C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Ser646="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2117,
          "referenceAllele": "C",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.2007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Ser669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2128,
          "referenceAllele": "C",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.2007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Ser669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2117,
          "referenceAllele": "C",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.2007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Ser669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2009,
          "referenceAllele": "C",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*1405C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*1405C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2687,
          "endIntronDirection": "-",
          "endIntronOffset": 10590,
          "referenceAllele": "C",
          "start": 2687,
          "startIntronDirection": "-",
          "startIntronOffset": 10591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2688-10591C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3636,
          "endIntronDirection": "+",
          "endIntronOffset": 7041,
          "referenceAllele": "C",
          "start": 3636,
          "startIntronDirection": "+",
          "startIntronOffset": 7040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3636+7041C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2117,
          "referenceAllele": "C",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.2007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Ser669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2128,
          "referenceAllele": "C",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.2128C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2098,
          "referenceAllele": "C",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.2098C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2113,
          "referenceAllele": "C",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.2007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Ser669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.2007C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.2007C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Ser669="
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Ser669="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2162,
          "referenceAllele": "C",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.2007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Ser669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2403,
          "referenceAllele": "C",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*1880C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*1880C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2167,
          "referenceAllele": "C",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Ser587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000520325.1:n.423C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 1621,
          "referenceAllele": "C",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000613033.1:c.180+1621C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484487.1:n.180+1621C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335763",
      "coordinates": [
        {
          "allele": "T",
          "end": 2220,
          "referenceAllele": "C",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Ser587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829403602",
      "coordinates": [
        {
          "allele": "T",
          "end": 2117,
          "referenceAllele": "C",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.2007C>T",
        "LRG_158t1:c.2007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Ser669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1998,
          "referenceAllele": "C",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.1983C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Ser661="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2050,
          "referenceAllele": "C",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Ser587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "C",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.1128C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Ser376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2062,
          "referenceAllele": "C",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.1128C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Ser376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2147,
          "referenceAllele": "C",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Ser587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2143,
          "referenceAllele": "C",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Ser587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2192,
          "referenceAllele": "C",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.1128C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Ser376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829403602",
      "coordinates": [
        {
          "allele": "T",
          "end": 2113,
          "referenceAllele": "C",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.2007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Ser669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.2007C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.2007C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Ser669="
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Ser669="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335763",
      "coordinates": [
        {
          "allele": "T",
          "end": 2163,
          "referenceAllele": "C",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Ser587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}