{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371655353",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.1670C>T (p.Ala557Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=565244[alleleid]",
        "alleleId": 565244,
        "preferredName": "NM_002485.5(NBN):c.1670C>T (p.Ala557Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/568246",
        "RCV": [
          "RCV000688543",
          "RCV002397380"
        ],
        "variationId": 568246
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90965647G>A?assembly=hg19",
        "id": "chr8:g.90965647G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89953419G>A?assembly=hg38",
        "id": "chr8:g.89953419G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1286743873",
        "rs": 1286743873
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89953419-G-A?dataset=gnomad_r4",
        "id": "8-89953419-G-A",
        "variant": "8:89953419 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 89953419,
          "referenceAllele": "G",
          "start": 89953418
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89953419G>A",
        "CM000670.2:g.89953419G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 90965647,
          "referenceAllele": "G",
          "start": 90965646
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90965647G>A",
        "CM000670.1:g.90965647G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 91034823,
          "referenceAllele": "G",
          "start": 91034822
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91034823G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36253,
          "referenceAllele": "C",
          "start": 36252
        }
      ],
      "hgvs": [
        "NG_008860.1:g.36253C>T",
        "LRG_158:g.36253C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2972,
          "referenceAllele": "C",
          "start": 2971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.2972C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1718,
          "referenceAllele": "C",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.1424C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Ala475Val",
        "hgvsWellDefined": "ENSP00000429971.2:p.Ala475Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1883,
          "referenceAllele": "C",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.1424C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Ala475Val",
        "hgvsWellDefined": "ENSP00000428252.2:p.Ala475Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1791,
          "referenceAllele": "C",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.1670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Ala557Val",
        "hgvsWellDefined": "ENSP00000513229.1:p.Ala557Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "referenceAllele": "C",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.1670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Ala557Val",
        "hgvsWellDefined": "ENSP00000513230.1:p.Ala557Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1756,
          "referenceAllele": "C",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*1281C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*1281C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1210,
          "referenceAllele": "C",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*979C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*979C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1625,
          "referenceAllele": "C",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*1338C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*1338C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3455,
          "referenceAllele": "C",
          "start": 3454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.3455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2009,
          "referenceAllele": "C",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.1424C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Ala475Val",
        "hgvsWellDefined": "ENSP00000513234.1:p.Ala475Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.1424C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Ala475Val",
        "hgvsWellDefined": "ENSP00000513235.1:p.Ala475Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1916,
          "referenceAllele": "C",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*1274C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*1274C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*1191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*1191C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1735,
          "referenceAllele": "C",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*1191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*1191C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*1274C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*1274C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1468,
          "referenceAllele": "C",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.1358C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Ala453Val",
        "hgvsWellDefined": "ENSP00000513240.1:p.Ala453Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*670C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "referenceAllele": "C",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.1670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Ala557Val",
        "hgvsWellDefined": "ENSP00000513242.1:p.Ala557Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "referenceAllele": "C",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.1670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Ala557Val",
        "hgvsWellDefined": "ENSP00000513243.1:p.Ala557Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "referenceAllele": "C",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.1670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Ala557Val",
        "hgvsWellDefined": "ENSP00000513244.1:p.Ala557Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1791,
          "referenceAllele": "C",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.1670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Ala557Val",
        "hgvsWellDefined": "ENSP00000513245.1:p.Ala557Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "referenceAllele": "C",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.1670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Ala557Val",
        "hgvsWellDefined": "ENSP00000513246.1:p.Ala557Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1672,
          "referenceAllele": "C",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*1068C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*1068C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2687,
          "endIntronDirection": "+",
          "endIntronOffset": 16945,
          "referenceAllele": "C",
          "start": 2687,
          "startIntronDirection": "+",
          "startIntronOffset": 16944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2687+16945C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3461,
          "referenceAllele": "C",
          "start": 3460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3461C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "referenceAllele": "C",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.1670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Ala557Val",
        "hgvsWellDefined": "ENSP00000513248.1:p.Ala557Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1791,
          "referenceAllele": "C",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.1791C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "referenceAllele": "C",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.1780C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1782,
          "referenceAllele": "C",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.1782C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1776,
          "referenceAllele": "C",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.1670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Ala557Val",
        "hgvsWellDefined": "ENSP00000265433.4:p.Ala557Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1670C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1670C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Ala557Val"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Ala557Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1825,
          "referenceAllele": "C",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.1670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Ala557Val",
        "hgvsWellDefined": "ENSP00000265433.3:p.Ala557Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*1543C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*1543C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1830,
          "referenceAllele": "C",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.1424C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Ala475Val",
        "hgvsWellDefined": "ENSP00000386924.1:p.Ala475Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335458",
      "coordinates": [
        {
          "allele": "T",
          "end": 1883,
          "referenceAllele": "C",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.1424C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Ala475Val",
        "hgvsWellDefined": "NP_001019859.1:p.Ala475Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891856397",
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "referenceAllele": "C",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.1670C>T",
        "LRG_158t1:c.1670C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Ala557Val",
        "hgvsWellDefined": "NP_002476.2:p.Ala557Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1661,
          "referenceAllele": "C",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.1646C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Ala549Val",
        "hgvsWellDefined": "XP_011515346.1:p.Ala549Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1713,
          "referenceAllele": "C",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.1424C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Ala475Val",
        "hgvsWellDefined": "XP_011515347.1:p.Ala475Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1809,
          "referenceAllele": "C",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.1809C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1864,
          "referenceAllele": "C",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.791C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Ala264Val",
        "hgvsWellDefined": "XP_016868949.1:p.Ala264Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1725,
          "referenceAllele": "C",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.791C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Ala264Val",
        "hgvsWellDefined": "XP_016868951.1:p.Ala264Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1810,
          "referenceAllele": "C",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.1424C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Ala475Val",
        "hgvsWellDefined": "XP_024302931.1:p.Ala475Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1806,
          "referenceAllele": "C",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.1424C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Ala475Val",
        "hgvsWellDefined": "XP_024302932.1:p.Ala475Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1855,
          "referenceAllele": "C",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.791C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Ala264Val",
        "hgvsWellDefined": "XP_024302933.1:p.Ala264Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891856397",
      "coordinates": [
        {
          "allele": "T",
          "end": 1776,
          "referenceAllele": "C",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.1670C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Ala557Val",
        "hgvsWellDefined": "NP_002476.2:p.Ala557Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1670C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1670C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Ala557Val"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Ala557Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335458",
      "coordinates": [
        {
          "allele": "T",
          "end": 1826,
          "referenceAllele": "C",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.1424C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Ala475Val",
        "hgvsWellDefined": "NP_001019859.1:p.Ala475Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}