{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10578755",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.1672A>G (p.Ile558Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=233639[alleleid]",
        "alleleId": 233639,
        "preferredName": "NM_002485.5(NBN):c.1672A>G (p.Ile558Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/231939",
        "RCV": [
          "RCV000216080",
          "RCV000465308"
        ],
        "variationId": 231939
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90965645T>C?assembly=hg19",
        "id": "chr8:g.90965645T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89953417T>C?assembly=hg38",
        "id": "chr8:g.89953417T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876659451",
        "rs": 876659451
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 89953417,
          "referenceAllele": "T",
          "start": 89953416
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89953417T>C",
        "CM000670.2:g.89953417T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 90965645,
          "referenceAllele": "T",
          "start": 90965644
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90965645T>C",
        "CM000670.1:g.90965645T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 91034821,
          "referenceAllele": "T",
          "start": 91034820
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91034821T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36255,
          "referenceAllele": "A",
          "start": 36254
        }
      ],
      "hgvs": [
        "NG_008860.1:g.36255A>G",
        "LRG_158:g.36255A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2974,
          "referenceAllele": "A",
          "start": 2973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.2974A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1720,
          "referenceAllele": "A",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.1426A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Ile476Val",
        "hgvsWellDefined": "ENSP00000429971.2:p.Ile476Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1885,
          "referenceAllele": "A",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.1426A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Ile476Val",
        "hgvsWellDefined": "ENSP00000428252.2:p.Ile476Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1793,
          "referenceAllele": "A",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.1672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Ile558Val",
        "hgvsWellDefined": "ENSP00000513229.1:p.Ile558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "referenceAllele": "A",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.1672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Ile558Val",
        "hgvsWellDefined": "ENSP00000513230.1:p.Ile558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1758,
          "referenceAllele": "A",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*1283A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*1283A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1212,
          "referenceAllele": "A",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*981A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*981A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1627,
          "referenceAllele": "A",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*1340A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*1340A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3457,
          "referenceAllele": "A",
          "start": 3456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.3457A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2011,
          "referenceAllele": "A",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.1426A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Ile476Val",
        "hgvsWellDefined": "ENSP00000513234.1:p.Ile476Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1644,
          "referenceAllele": "A",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.1426A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Ile476Val",
        "hgvsWellDefined": "ENSP00000513235.1:p.Ile476Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1918,
          "referenceAllele": "A",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*1276A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*1276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "A",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*1193A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*1193A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1737,
          "referenceAllele": "A",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*1193A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*1193A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1868,
          "referenceAllele": "A",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*1276A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*1276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1470,
          "referenceAllele": "A",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.1360A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Ile454Val",
        "hgvsWellDefined": "ENSP00000513240.1:p.Ile454Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "referenceAllele": "A",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*672A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "referenceAllele": "A",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.1672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Ile558Val",
        "hgvsWellDefined": "ENSP00000513242.1:p.Ile558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "referenceAllele": "A",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.1672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Ile558Val",
        "hgvsWellDefined": "ENSP00000513243.1:p.Ile558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "referenceAllele": "A",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.1672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Ile558Val",
        "hgvsWellDefined": "ENSP00000513244.1:p.Ile558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1793,
          "referenceAllele": "A",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.1672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Ile558Val",
        "hgvsWellDefined": "ENSP00000513245.1:p.Ile558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "referenceAllele": "A",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.1672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Ile558Val",
        "hgvsWellDefined": "ENSP00000513246.1:p.Ile558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "referenceAllele": "A",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*1070A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*1070A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2687,
          "endIntronDirection": "+",
          "endIntronOffset": 16947,
          "referenceAllele": "A",
          "start": 2687,
          "startIntronDirection": "+",
          "startIntronOffset": 16946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2687+16947A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3463,
          "referenceAllele": "A",
          "start": 3462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3463A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "referenceAllele": "A",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.1672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Ile558Val",
        "hgvsWellDefined": "ENSP00000513248.1:p.Ile558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1793,
          "referenceAllele": "A",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.1793A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "referenceAllele": "A",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.1782A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1784,
          "referenceAllele": "A",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.1784A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1778,
          "referenceAllele": "A",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.1672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Ile558Val",
        "hgvsWellDefined": "ENSP00000265433.4:p.Ile558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1672A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1672A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Ile558Val"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Ile558Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1827,
          "referenceAllele": "A",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.1672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Ile558Val",
        "hgvsWellDefined": "ENSP00000265433.3:p.Ile558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2068,
          "referenceAllele": "A",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*1545A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*1545A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1832,
          "referenceAllele": "A",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.1426A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Ile476Val",
        "hgvsWellDefined": "ENSP00000386924.1:p.Ile476Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335463",
      "coordinates": [
        {
          "allele": "G",
          "end": 1885,
          "referenceAllele": "A",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.1426A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Ile476Val",
        "hgvsWellDefined": "NP_001019859.1:p.Ile476Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466024",
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "referenceAllele": "A",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.1672A>G",
        "LRG_158t1:c.1672A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Ile558Val",
        "hgvsWellDefined": "NP_002476.2:p.Ile558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1663,
          "referenceAllele": "A",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.1648A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Ile550Val",
        "hgvsWellDefined": "XP_011515346.1:p.Ile550Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1715,
          "referenceAllele": "A",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.1426A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Ile476Val",
        "hgvsWellDefined": "XP_011515347.1:p.Ile476Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1811,
          "referenceAllele": "A",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.1811A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1866,
          "referenceAllele": "A",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.793A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Ile265Val",
        "hgvsWellDefined": "XP_016868949.1:p.Ile265Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1727,
          "referenceAllele": "A",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.793A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Ile265Val",
        "hgvsWellDefined": "XP_016868951.1:p.Ile265Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1812,
          "referenceAllele": "A",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.1426A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Ile476Val",
        "hgvsWellDefined": "XP_024302931.1:p.Ile476Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1808,
          "referenceAllele": "A",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.1426A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Ile476Val",
        "hgvsWellDefined": "XP_024302932.1:p.Ile476Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "A",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.793A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Ile265Val",
        "hgvsWellDefined": "XP_024302933.1:p.Ile265Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466024",
      "coordinates": [
        {
          "allele": "G",
          "end": 1778,
          "referenceAllele": "A",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.1672A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Ile558Val",
        "hgvsWellDefined": "NP_002476.2:p.Ile558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1672A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1672A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Ile558Val"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Ile558Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335463",
      "coordinates": [
        {
          "allele": "G",
          "end": 1828,
          "referenceAllele": "A",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.1426A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Ile476Val",
        "hgvsWellDefined": "NP_001019859.1:p.Ile476Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}