{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA167864",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.1591A>G (p.Ile531Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151956[alleleid]",
        "alleleId": 151956,
        "preferredName": "NM_002485.5(NBN):c.1591A>G (p.Ile531Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142242",
        "RCV": [
          "RCV000131247",
          "RCV000542468",
          "RCV001357760",
          "RCV001778752"
        ],
        "variationId": 142242
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-90965726-T-C",
        "id": "8-90965726-T-C",
        "variant": "8:90965726 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90965726T>C?assembly=hg19",
        "id": "chr8:g.90965726T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89953498T>C?assembly=hg38",
        "id": "chr8:g.89953498T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587782330",
        "rs": 587782330
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-90965726-T-C?dataset=gnomad_r2_1",
        "id": "8-90965726-T-C",
        "variant": "8:90965726 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89953498-T-C?dataset=gnomad_r4",
        "id": "8-89953498-T-C",
        "variant": "8:89953498 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 89953498,
          "referenceAllele": "T",
          "start": 89953497
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89953498T>C",
        "CM000670.2:g.89953498T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 90965726,
          "referenceAllele": "T",
          "start": 90965725
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90965726T>C",
        "CM000670.1:g.90965726T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 91034902,
          "referenceAllele": "T",
          "start": 91034901
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91034902T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36174,
          "referenceAllele": "A",
          "start": 36173
        }
      ],
      "hgvs": [
        "NG_008860.1:g.36174A>G",
        "LRG_158:g.36174A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2893,
          "referenceAllele": "A",
          "start": 2892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.2893A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1639,
          "referenceAllele": "A",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.1345A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Ile449Val",
        "hgvsWellDefined": "ENSP00000429971.2:p.Ile449Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1804,
          "referenceAllele": "A",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.1345A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Ile449Val",
        "hgvsWellDefined": "ENSP00000428252.2:p.Ile449Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "referenceAllele": "A",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.1591A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Ile531Val",
        "hgvsWellDefined": "ENSP00000513229.1:p.Ile531Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "referenceAllele": "A",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.1591A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Ile531Val",
        "hgvsWellDefined": "ENSP00000513230.1:p.Ile531Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1677,
          "referenceAllele": "A",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*1202A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*1202A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "referenceAllele": "A",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*900A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*900A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1546,
          "referenceAllele": "A",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*1259A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*1259A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3376,
          "referenceAllele": "A",
          "start": 3375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.3376A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1930,
          "referenceAllele": "A",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.1345A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Ile449Val",
        "hgvsWellDefined": "ENSP00000513234.1:p.Ile449Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1563,
          "referenceAllele": "A",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.1345A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Ile449Val",
        "hgvsWellDefined": "ENSP00000513235.1:p.Ile449Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1837,
          "referenceAllele": "A",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*1195A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*1195A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1706,
          "referenceAllele": "A",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*1112A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*1112A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1656,
          "referenceAllele": "A",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*1112A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*1112A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "A",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*1195A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*1195A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1389,
          "referenceAllele": "A",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.1279A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Ile427Val",
        "hgvsWellDefined": "ENSP00000513240.1:p.Ile427Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1183,
          "referenceAllele": "A",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*591A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*591A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "referenceAllele": "A",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.1591A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Ile531Val",
        "hgvsWellDefined": "ENSP00000513242.1:p.Ile531Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "referenceAllele": "A",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.1591A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Ile531Val",
        "hgvsWellDefined": "ENSP00000513243.1:p.Ile531Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "referenceAllele": "A",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.1591A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Ile531Val",
        "hgvsWellDefined": "ENSP00000513244.1:p.Ile531Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "referenceAllele": "A",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.1591A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Ile531Val",
        "hgvsWellDefined": "ENSP00000513245.1:p.Ile531Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "referenceAllele": "A",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.1591A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Ile531Val",
        "hgvsWellDefined": "ENSP00000513246.1:p.Ile531Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1593,
          "referenceAllele": "A",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*989A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*989A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2687,
          "endIntronDirection": "+",
          "endIntronOffset": 16866,
          "referenceAllele": "A",
          "start": 2687,
          "startIntronDirection": "+",
          "startIntronOffset": 16865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2687+16866A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3382,
          "referenceAllele": "A",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3382A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "referenceAllele": "A",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.1591A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Ile531Val",
        "hgvsWellDefined": "ENSP00000513248.1:p.Ile531Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "referenceAllele": "A",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.1712A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "referenceAllele": "A",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.1701A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1703,
          "referenceAllele": "A",
          "start": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.1703A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1697,
          "referenceAllele": "A",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.1591A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Ile531Val",
        "hgvsWellDefined": "ENSP00000265433.4:p.Ile531Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1591A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1591A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Ile531Val"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Ile531Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1746,
          "referenceAllele": "A",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.1591A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Ile531Val",
        "hgvsWellDefined": "ENSP00000265433.3:p.Ile531Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1987,
          "referenceAllele": "A",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*1464A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*1464A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1751,
          "referenceAllele": "A",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.1345A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Ile449Val",
        "hgvsWellDefined": "ENSP00000386924.1:p.Ile449Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335390",
      "coordinates": [
        {
          "allele": "G",
          "end": 1804,
          "referenceAllele": "A",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.1345A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Ile449Val",
        "hgvsWellDefined": "NP_001019859.1:p.Ile449Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA167866",
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "referenceAllele": "A",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.1591A>G",
        "LRG_158t1:c.1591A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Ile531Val",
        "hgvsWellDefined": "NP_002476.2:p.Ile531Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1582,
          "referenceAllele": "A",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.1567A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Ile523Val",
        "hgvsWellDefined": "XP_011515346.1:p.Ile523Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1634,
          "referenceAllele": "A",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.1345A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Ile449Val",
        "hgvsWellDefined": "XP_011515347.1:p.Ile449Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1730,
          "referenceAllele": "A",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.1730A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1785,
          "referenceAllele": "A",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Ile238Val",
        "hgvsWellDefined": "XP_016868949.1:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1646,
          "referenceAllele": "A",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Ile238Val",
        "hgvsWellDefined": "XP_016868951.1:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1731,
          "referenceAllele": "A",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.1345A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Ile449Val",
        "hgvsWellDefined": "XP_024302931.1:p.Ile449Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1727,
          "referenceAllele": "A",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.1345A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Ile449Val",
        "hgvsWellDefined": "XP_024302932.1:p.Ile449Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1776,
          "referenceAllele": "A",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Ile238Val",
        "hgvsWellDefined": "XP_024302933.1:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA167866",
      "coordinates": [
        {
          "allele": "G",
          "end": 1697,
          "referenceAllele": "A",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.1591A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Ile531Val",
        "hgvsWellDefined": "NP_002476.2:p.Ile531Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1591A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1591A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Ile531Val"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Ile531Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335390",
      "coordinates": [
        {
          "allele": "G",
          "end": 1747,
          "referenceAllele": "A",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.1345A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Ile449Val",
        "hgvsWellDefined": "NP_001019859.1:p.Ile449Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}