{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA287950",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.788T>C (p.Phe263Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133337[alleleid]",
        "alleleId": 133337,
        "preferredName": "NM_002485.5(NBN):c.788T>C (p.Phe263Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127880",
        "RCV": [
          "RCV000115806",
          "RCV000199794",
          "RCV000212737",
          "RCV000656926",
          "RCV003492492"
        ],
        "variationId": 127880
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-90982700-A-G",
        "id": "8-90982700-A-G",
        "variant": "8:90982700 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90982700A>G?assembly=hg19",
        "id": "chr8:g.90982700A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89970472A>G?assembly=hg38",
        "id": "chr8:g.89970472A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147626427",
        "rs": 147626427
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-90982700-A-G?dataset=gnomad_r2_1",
        "id": "8-90982700-A-G",
        "variant": "8:90982700 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89970472-A-G?dataset=gnomad_r3",
        "id": "8-89970472-A-G",
        "variant": "8:89970472 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89970472-A-G?dataset=gnomad_r4",
        "id": "8-89970472-A-G",
        "variant": "8:89970472 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 89970472,
          "referenceAllele": "A",
          "start": 89970471
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89970472A>G",
        "CM000670.2:g.89970472A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 90982700,
          "referenceAllele": "A",
          "start": 90982699
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90982700A>G",
        "CM000670.1:g.90982700A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 91051876,
          "referenceAllele": "A",
          "start": 91051875
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91051876A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 19200,
          "referenceAllele": "T",
          "start": 19199
        }
      ],
      "hgvs": [
        "NG_008860.1:g.19200T>C",
        "LRG_158:g.19200T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2090,
          "referenceAllele": "T",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.2090T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "referenceAllele": "T",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.542T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Phe181Ser",
        "hgvsWellDefined": "ENSP00000429971.2:p.Phe181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1001,
          "referenceAllele": "T",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.542T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Phe181Ser",
        "hgvsWellDefined": "ENSP00000428252.2:p.Phe181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 909,
          "referenceAllele": "T",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Phe263Ser",
        "hgvsWellDefined": "ENSP00000513229.1:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "T",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Phe263Ser",
        "hgvsWellDefined": "ENSP00000513230.1:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "referenceAllele": "T",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*399T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*399T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 328,
          "referenceAllele": "T",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*97T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*97T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 743,
          "referenceAllele": "T",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*456T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*456T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2573,
          "referenceAllele": "T",
          "start": 2572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.2573T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1127,
          "referenceAllele": "T",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.542T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Phe181Ser",
        "hgvsWellDefined": "ENSP00000513234.1:p.Phe181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 760,
          "referenceAllele": "T",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.542T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Phe181Ser",
        "hgvsWellDefined": "ENSP00000513235.1:p.Phe181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1034,
          "referenceAllele": "T",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*392T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*392T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 903,
          "referenceAllele": "T",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*309T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*309T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 853,
          "referenceAllele": "T",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*309T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*309T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 984,
          "referenceAllele": "T",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*392T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*392T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 5964,
          "referenceAllele": "T",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 5965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.585-5965T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:n.585-5965T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 586,
          "endIntronDirection": "+",
          "endIntronOffset": 10262,
          "referenceAllele": "T",
          "start": 586,
          "startIntronDirection": "+",
          "startIntronOffset": 10261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.480+10262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.480+10262T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "T",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Phe263Ser",
        "hgvsWellDefined": "ENSP00000513242.1:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "T",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Phe263Ser",
        "hgvsWellDefined": "ENSP00000513243.1:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "T",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Phe263Ser",
        "hgvsWellDefined": "ENSP00000513244.1:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 909,
          "referenceAllele": "T",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Phe263Ser",
        "hgvsWellDefined": "ENSP00000513245.1:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "T",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Phe263Ser",
        "hgvsWellDefined": "ENSP00000513246.1:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "referenceAllele": "T",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*186T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*186T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2579,
          "referenceAllele": "T",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2579T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2579,
          "referenceAllele": "T",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.2579T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "T",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Phe263Ser",
        "hgvsWellDefined": "ENSP00000513248.1:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 909,
          "referenceAllele": "T",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.909T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "T",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.898T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 900,
          "referenceAllele": "T",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.900T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "referenceAllele": "T",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Phe263Ser",
        "hgvsWellDefined": "ENSP00000265433.4:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.788T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.788T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Phe263Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Phe263Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 943,
          "referenceAllele": "T",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Phe263Ser",
        "hgvsWellDefined": "ENSP00000265433.3:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1184,
          "referenceAllele": "T",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*661T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*661T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 948,
          "referenceAllele": "T",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.542T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Phe181Ser",
        "hgvsWellDefined": "ENSP00000386924.1:p.Phe181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825334568",
      "coordinates": [
        {
          "allele": "C",
          "end": 1001,
          "referenceAllele": "T",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.542T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Phe181Ser",
        "hgvsWellDefined": "NP_001019859.1:p.Phe181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA287952",
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "T",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.788T>C",
        "LRG_158t1:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Phe263Ser",
        "hgvsWellDefined": "NP_002476.2:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "T",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.764T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Phe255Ser",
        "hgvsWellDefined": "XP_011515346.1:p.Phe255Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 831,
          "referenceAllele": "T",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Phe181Ser",
        "hgvsWellDefined": "XP_011515347.1:p.Phe181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 925,
          "referenceAllele": "T",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517046.1:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515348.1:p.Phe263Ser",
        "hgvsWellDefined": "XP_011515348.1:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 925,
          "referenceAllele": "T",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.925T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 982,
          "referenceAllele": "T",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.-92T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:n.-92T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 843,
          "referenceAllele": "T",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.-92T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:n.-92T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 928,
          "referenceAllele": "T",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Phe181Ser",
        "hgvsWellDefined": "XP_024302931.1:p.Phe181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 924,
          "referenceAllele": "T",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Phe181Ser",
        "hgvsWellDefined": "XP_024302932.1:p.Phe181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 973,
          "referenceAllele": "T",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.-92T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:n.-92T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA287952",
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "referenceAllele": "T",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Phe263Ser",
        "hgvsWellDefined": "NP_002476.2:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.788T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.788T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Phe263Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Phe263Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825334568",
      "coordinates": [
        {
          "allele": "C",
          "end": 944,
          "referenceAllele": "T",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.542T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Phe181Ser",
        "hgvsWellDefined": "NP_001019859.1:p.Phe181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}