{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA462114815",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.1395A>G (p.Lys465=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=474872[alleleid]",
        "alleleId": 474872,
        "preferredName": "NM_002485.5(NBN):c.1395A>G (p.Lys465=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/480041",
        "RCV": [
          "RCV000563286",
          "RCV001449253"
        ],
        "variationId": 480041
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90967513T>C?assembly=hg19",
        "id": "chr8:g.90967513T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89955285T>C?assembly=hg38",
        "id": "chr8:g.89955285T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1213870507",
        "rs": 1213870507
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 89955285,
          "referenceAllele": "T",
          "start": 89955284
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89955285T>C",
        "CM000670.2:g.89955285T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 90967513,
          "referenceAllele": "T",
          "start": 90967512
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90967513T>C",
        "CM000670.1:g.90967513T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 91036689,
          "referenceAllele": "T",
          "start": 91036688
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91036689T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34387,
          "referenceAllele": "A",
          "start": 34386
        }
      ],
      "hgvs": [
        "NG_008860.1:g.34387A>G",
        "LRG_158:g.34387A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2697,
          "referenceAllele": "A",
          "start": 2696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.2697A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1443,
          "referenceAllele": "A",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.1149A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Lys383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1608,
          "referenceAllele": "A",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.1149A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Lys383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1516,
          "referenceAllele": "A",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.1395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Lys465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1505,
          "referenceAllele": "A",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.1395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Lys465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1481,
          "referenceAllele": "A",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*1006A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*1006A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 935,
          "referenceAllele": "A",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*704A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*704A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1350,
          "referenceAllele": "A",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*1063A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*1063A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3180,
          "referenceAllele": "A",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.3180A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1734,
          "referenceAllele": "A",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.1149A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Lys383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1367,
          "referenceAllele": "A",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.1149A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Lys383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1641,
          "referenceAllele": "A",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*999A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*999A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1510,
          "referenceAllele": "A",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*916A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*916A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1460,
          "referenceAllele": "A",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*916A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*916A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1591,
          "referenceAllele": "A",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*999A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*999A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "referenceAllele": "A",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.1083A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Lys361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 987,
          "referenceAllele": "A",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*395A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1505,
          "referenceAllele": "A",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.1395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Lys465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1505,
          "referenceAllele": "A",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.1395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Lys465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1505,
          "referenceAllele": "A",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.1395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Lys465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1516,
          "referenceAllele": "A",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.1395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Lys465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1505,
          "referenceAllele": "A",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.1395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Lys465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1397,
          "referenceAllele": "A",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*793A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*793A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2687,
          "endIntronDirection": "+",
          "endIntronOffset": 15079,
          "referenceAllele": "A",
          "start": 2687,
          "startIntronDirection": "+",
          "startIntronOffset": 15078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2687+15079A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3186,
          "referenceAllele": "A",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3186A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1505,
          "referenceAllele": "A",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.1395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Lys465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1516,
          "referenceAllele": "A",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.1516A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1505,
          "referenceAllele": "A",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.1505A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1507,
          "referenceAllele": "A",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.1507A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1501,
          "referenceAllele": "A",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.1395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Lys465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1395A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1395A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Lys465="
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Lys465="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1550,
          "referenceAllele": "A",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.1395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Lys465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1791,
          "referenceAllele": "A",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*1268A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*1268A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1555,
          "referenceAllele": "A",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.1149A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Lys383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335192",
      "coordinates": [
        {
          "allele": "G",
          "end": 1608,
          "referenceAllele": "A",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.1149A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Lys383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829402356",
      "coordinates": [
        {
          "allele": "G",
          "end": 1505,
          "referenceAllele": "A",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.1395A>G",
        "LRG_158t1:c.1395A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Lys465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1386,
          "referenceAllele": "A",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.1371A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Lys457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1438,
          "referenceAllele": "A",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.1149A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Lys383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1532,
          "referenceAllele": "A",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517046.1:c.1395A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515348.1:p.Lys465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1532,
          "referenceAllele": "A",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.1532A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1589,
          "referenceAllele": "A",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.516A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Lys172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1450,
          "referenceAllele": "A",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.516A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Lys172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1535,
          "referenceAllele": "A",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.1149A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Lys383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1531,
          "referenceAllele": "A",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.1149A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Lys383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1580,
          "referenceAllele": "A",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.516A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Lys172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829402356",
      "coordinates": [
        {
          "allele": "G",
          "end": 1501,
          "referenceAllele": "A",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.1395A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Lys465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1395A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1395A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Lys465="
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Lys465="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335192",
      "coordinates": [
        {
          "allele": "G",
          "end": 1551,
          "referenceAllele": "A",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.1149A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Lys383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}