{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371655047",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.1807T>C (p.Phe603Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90965510A>G?assembly=hg19",
        "id": "chr8:g.90965510A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89953282A>G?assembly=hg38",
        "id": "chr8:g.89953282A>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 89953282,
          "referenceAllele": "A",
          "start": 89953281
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89953282A>G",
        "CM000670.2:g.89953282A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 90965510,
          "referenceAllele": "A",
          "start": 90965509
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90965510A>G",
        "CM000670.1:g.90965510A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 91034686,
          "referenceAllele": "A",
          "start": 91034685
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91034686A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 36390,
          "referenceAllele": "T",
          "start": 36389
        }
      ],
      "hgvs": [
        "NG_008860.1:g.36390T>C",
        "LRG_158:g.36390T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3109,
          "referenceAllele": "T",
          "start": 3108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.3109T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1855,
          "referenceAllele": "T",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.1561T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Phe521Leu",
        "hgvsWellDefined": "ENSP00000429971.2:p.Phe521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2020,
          "referenceAllele": "T",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.1561T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Phe521Leu",
        "hgvsWellDefined": "ENSP00000428252.2:p.Phe521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1928,
          "referenceAllele": "T",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.1807T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Phe603Leu",
        "hgvsWellDefined": "ENSP00000513229.1:p.Phe603Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1917,
          "referenceAllele": "T",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.1807T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Phe603Leu",
        "hgvsWellDefined": "ENSP00000513230.1:p.Phe603Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1893,
          "referenceAllele": "T",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*1418T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*1418T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1347,
          "referenceAllele": "T",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*1116T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*1116T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1762,
          "referenceAllele": "T",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*1475T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*1475T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3592,
          "referenceAllele": "T",
          "start": 3591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.3592T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2146,
          "referenceAllele": "T",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.1561T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Phe521Leu",
        "hgvsWellDefined": "ENSP00000513234.1:p.Phe521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1779,
          "referenceAllele": "T",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.1561T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Phe521Leu",
        "hgvsWellDefined": "ENSP00000513235.1:p.Phe521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2053,
          "referenceAllele": "T",
          "start": 2052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*1411T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*1411T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1922,
          "referenceAllele": "T",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*1328T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*1328T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "referenceAllele": "T",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*1328T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*1328T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2003,
          "referenceAllele": "T",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*1411T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*1411T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1605,
          "referenceAllele": "T",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.1495T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Phe499Leu",
        "hgvsWellDefined": "ENSP00000513240.1:p.Phe499Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1399,
          "referenceAllele": "T",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*807T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*807T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1917,
          "referenceAllele": "T",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.1807T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Phe603Leu",
        "hgvsWellDefined": "ENSP00000513242.1:p.Phe603Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1917,
          "referenceAllele": "T",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.1807T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Phe603Leu",
        "hgvsWellDefined": "ENSP00000513243.1:p.Phe603Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1917,
          "referenceAllele": "T",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.1807T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Phe603Leu",
        "hgvsWellDefined": "ENSP00000513244.1:p.Phe603Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1928,
          "referenceAllele": "T",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.1807T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Phe603Leu",
        "hgvsWellDefined": "ENSP00000513245.1:p.Phe603Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1917,
          "referenceAllele": "T",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.1807T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Phe603Leu",
        "hgvsWellDefined": "ENSP00000513246.1:p.Phe603Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1809,
          "referenceAllele": "T",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*1205T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*1205T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2687,
          "endIntronDirection": "+",
          "endIntronOffset": 17082,
          "referenceAllele": "T",
          "start": 2687,
          "startIntronDirection": "+",
          "startIntronOffset": 17081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2687+17082T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3598,
          "referenceAllele": "T",
          "start": 3597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3598T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1917,
          "referenceAllele": "T",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.1807T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Phe603Leu",
        "hgvsWellDefined": "ENSP00000513248.1:p.Phe603Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1928,
          "referenceAllele": "T",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.1928T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1917,
          "referenceAllele": "T",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.1917T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1919,
          "referenceAllele": "T",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.1919T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1913,
          "referenceAllele": "T",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.1807T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Phe603Leu",
        "hgvsWellDefined": "ENSP00000265433.4:p.Phe603Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1807T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1807T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Phe603Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Phe603Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1962,
          "referenceAllele": "T",
          "start": 1961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.1807T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Phe603Leu",
        "hgvsWellDefined": "ENSP00000265433.3:p.Phe603Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2203,
          "referenceAllele": "T",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*1680T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*1680T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1967,
          "referenceAllele": "T",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.1561T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Phe521Leu",
        "hgvsWellDefined": "ENSP00000386924.1:p.Phe521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "T",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000613033.1:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484487.1:p.Phe25Leu",
        "hgvsWellDefined": "ENSP00000484487.1:p.Phe25Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335588",
      "coordinates": [
        {
          "allele": "C",
          "end": 2020,
          "referenceAllele": "T",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.1561T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Phe521Leu",
        "hgvsWellDefined": "NP_001019859.1:p.Phe521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA191234",
      "coordinates": [
        {
          "allele": "C",
          "end": 1917,
          "referenceAllele": "T",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.1807T>C",
        "LRG_158t1:c.1807T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Phe603Leu",
        "hgvsWellDefined": "NP_002476.2:p.Phe603Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1798,
          "referenceAllele": "T",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.1783T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Phe595Leu",
        "hgvsWellDefined": "XP_011515346.1:p.Phe595Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1850,
          "referenceAllele": "T",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.1561T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Phe521Leu",
        "hgvsWellDefined": "XP_011515347.1:p.Phe521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1946,
          "referenceAllele": "T",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.1946T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2001,
          "referenceAllele": "T",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.928T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Phe310Leu",
        "hgvsWellDefined": "XP_016868949.1:p.Phe310Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1862,
          "referenceAllele": "T",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.928T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Phe310Leu",
        "hgvsWellDefined": "XP_016868951.1:p.Phe310Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1947,
          "referenceAllele": "T",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.1561T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Phe521Leu",
        "hgvsWellDefined": "XP_024302931.1:p.Phe521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1943,
          "referenceAllele": "T",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.1561T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Phe521Leu",
        "hgvsWellDefined": "XP_024302932.1:p.Phe521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1992,
          "referenceAllele": "T",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.928T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Phe310Leu",
        "hgvsWellDefined": "XP_024302933.1:p.Phe310Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA191234",
      "coordinates": [
        {
          "allele": "C",
          "end": 1913,
          "referenceAllele": "T",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.1807T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Phe603Leu",
        "hgvsWellDefined": "NP_002476.2:p.Phe603Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1807T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1807T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Phe603Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Phe603Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335588",
      "coordinates": [
        {
          "allele": "C",
          "end": 1963,
          "referenceAllele": "T",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.1561T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Phe521Leu",
        "hgvsWellDefined": "NP_001019859.1:p.Phe521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}