{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA336228",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.854G>C (p.Cys285Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212645[alleleid]",
        "alleleId": 212645,
        "preferredName": "NM_002485.5(NBN):c.854G>C (p.Cys285Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216569",
        "RCV": [
          "RCV000196198",
          "RCV001017981"
        ],
        "variationId": 216569
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90982634C>G?assembly=hg19",
        "id": "chr8:g.90982634C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89970406C>G?assembly=hg38",
        "id": "chr8:g.89970406C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863224715",
        "rs": 863224715
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 89970406,
          "referenceAllele": "C",
          "start": 89970405
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89970406C>G",
        "CM000670.2:g.89970406C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 90982634,
          "referenceAllele": "C",
          "start": 90982633
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90982634C>G",
        "CM000670.1:g.90982634C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 91051810,
          "referenceAllele": "C",
          "start": 91051809
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91051810C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 19266,
          "referenceAllele": "G",
          "start": 19265
        }
      ],
      "hgvs": [
        "NG_008860.1:g.19266G>C",
        "LRG_158:g.19266G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2156,
          "referenceAllele": "G",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.2156G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 902,
          "referenceAllele": "G",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.608G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Cys203Ser",
        "hgvsWellDefined": "ENSP00000429971.2:p.Cys203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.608G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Cys203Ser",
        "hgvsWellDefined": "ENSP00000428252.2:p.Cys203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 975,
          "referenceAllele": "G",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Cys285Ser",
        "hgvsWellDefined": "ENSP00000513229.1:p.Cys285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Cys285Ser",
        "hgvsWellDefined": "ENSP00000513230.1:p.Cys285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*465G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*465G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "referenceAllele": "G",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*163G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*163G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*522G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*522G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2639,
          "referenceAllele": "G",
          "start": 2638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.2639G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.608G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Cys203Ser",
        "hgvsWellDefined": "ENSP00000513234.1:p.Cys203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 826,
          "referenceAllele": "G",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.608G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Cys203Ser",
        "hgvsWellDefined": "ENSP00000513235.1:p.Cys203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1100,
          "referenceAllele": "G",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*458G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*458G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*375G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*375G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 919,
          "referenceAllele": "G",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*375G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*375G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1050,
          "referenceAllele": "G",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*458G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*458G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 5898,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 5899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.585-5899G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:n.585-5899G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 586,
          "endIntronDirection": "+",
          "endIntronOffset": 10328,
          "referenceAllele": "G",
          "start": 586,
          "startIntronDirection": "+",
          "startIntronOffset": 10327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.480+10328G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.480+10328G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Cys285Ser",
        "hgvsWellDefined": "ENSP00000513242.1:p.Cys285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Cys285Ser",
        "hgvsWellDefined": "ENSP00000513243.1:p.Cys285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Cys285Ser",
        "hgvsWellDefined": "ENSP00000513244.1:p.Cys285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 975,
          "referenceAllele": "G",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Cys285Ser",
        "hgvsWellDefined": "ENSP00000513245.1:p.Cys285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Cys285Ser",
        "hgvsWellDefined": "ENSP00000513246.1:p.Cys285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*252G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*252G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2645,
          "referenceAllele": "G",
          "start": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2645G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2645,
          "referenceAllele": "G",
          "start": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.2645G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Cys285Ser",
        "hgvsWellDefined": "ENSP00000513248.1:p.Cys285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 975,
          "referenceAllele": "G",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.975G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.964G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.966G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 960,
          "referenceAllele": "G",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Cys285Ser",
        "hgvsWellDefined": "ENSP00000265433.4:p.Cys285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.854G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.854G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Cys285Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Cys285Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1009,
          "referenceAllele": "G",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Cys285Ser",
        "hgvsWellDefined": "ENSP00000265433.3:p.Cys285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "referenceAllele": "G",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*727G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*727G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1014,
          "referenceAllele": "G",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.608G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Cys203Ser",
        "hgvsWellDefined": "ENSP00000386924.1:p.Cys203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825334645",
      "coordinates": [
        {
          "allele": "C",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.608G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Cys203Ser",
        "hgvsWellDefined": "NP_001019859.1:p.Cys203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA336230",
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.854G>C",
        "LRG_158t1:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Cys285Ser",
        "hgvsWellDefined": "NP_002476.2:p.Cys285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.830G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Cys277Ser",
        "hgvsWellDefined": "XP_011515346.1:p.Cys277Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.608G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Cys203Ser",
        "hgvsWellDefined": "XP_011515347.1:p.Cys203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517046.1:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515348.1:p.Cys285Ser",
        "hgvsWellDefined": "XP_011515348.1:p.Cys285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.991G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "G",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.-26G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:n.-26G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 909,
          "referenceAllele": "G",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.-26G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:n.-26G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.608G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Cys203Ser",
        "hgvsWellDefined": "XP_024302931.1:p.Cys203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.608G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Cys203Ser",
        "hgvsWellDefined": "XP_024302932.1:p.Cys203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1039,
          "referenceAllele": "G",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.-26G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:n.-26G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA336230",
      "coordinates": [
        {
          "allele": "C",
          "end": 960,
          "referenceAllele": "G",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Cys285Ser",
        "hgvsWellDefined": "NP_002476.2:p.Cys285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.854G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.854G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Cys285Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Cys285Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825334645",
      "coordinates": [
        {
          "allele": "C",
          "end": 1010,
          "referenceAllele": "G",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.608G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Cys203Ser",
        "hgvsWellDefined": "NP_001019859.1:p.Cys203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}