{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA160975",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.283G>A (p.Asp95Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133326[alleleid]",
        "alleleId": 133326,
        "preferredName": "NM_002485.5(NBN):c.283G>A (p.Asp95Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127869",
        "RCV": [
          "RCV000115792",
          "RCV000121616",
          "RCV000123216",
          "RCV000588621"
        ],
        "variationId": 127869
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-90993640-C-T",
        "id": "8-90993640-C-T",
        "variant": "8:90993640 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90993640C>T?assembly=hg19",
        "id": "chr8:g.90993640C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89981412C>T?assembly=hg38",
        "id": "chr8:g.89981412C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61753720",
        "rs": 61753720
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-90993640-C-T?dataset=gnomad_r2_1",
        "id": "8-90993640-C-T",
        "variant": "8:90993640 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89981412-C-T?dataset=gnomad_r3",
        "id": "8-89981412-C-T",
        "variant": "8:89981412 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89981412-C-T?dataset=gnomad_r4",
        "id": "8-89981412-C-T",
        "variant": "8:89981412 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 89981412,
          "referenceAllele": "C",
          "start": 89981411
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89981412C>T",
        "CM000670.2:g.89981412C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 90993640,
          "referenceAllele": "C",
          "start": 90993639
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90993640C>T",
        "CM000670.1:g.90993640C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 91062816,
          "referenceAllele": "C",
          "start": 91062815
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91062816C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8260,
          "referenceAllele": "G",
          "start": 8259
        }
      ],
      "hgvs": [
        "NG_008860.1:g.8260G>A",
        "LRG_158:g.8260G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1585,
          "referenceAllele": "G",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.1585G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 331,
          "referenceAllele": "G",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Asp13Asn",
        "hgvsWellDefined": "ENSP00000429971.2:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "referenceAllele": "G",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Asp13Asn",
        "hgvsWellDefined": "ENSP00000428252.2:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513229.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513230.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 320,
          "referenceAllele": "G",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513231.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 3113,
          "referenceAllele": "G",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.37+3113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.37+3113G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "endIntronDirection": "-",
          "endIntronOffset": 518,
          "referenceAllele": "G",
          "start": 275,
          "startIntronDirection": "-",
          "startIntronOffset": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.172-519G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.172-519G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1587,
          "referenceAllele": "G",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.1587G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 622,
          "referenceAllele": "G",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Asp13Asn",
        "hgvsWellDefined": "ENSP00000513234.1:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 255,
          "referenceAllele": "G",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Asp13Asn",
        "hgvsWellDefined": "ENSP00000513235.1:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:p.Asp13Asn",
        "hgvsWellDefined": "ENSP00000513236.1:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:p.Asp13Asn",
        "hgvsWellDefined": "ENSP00000513237.1:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513238.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513239.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513240.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513241.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513242.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513243.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513244.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513245.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513246.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513247.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "G",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.1593G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "G",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.1593G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000513248.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.404G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.393G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.395G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000265433.4:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.283G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.283G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Asp95Asn"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Asp95Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000265433.3:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*156G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*156G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Asp13Asn",
        "hgvsWellDefined": "ENSP00000386924.1:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 326,
          "referenceAllele": "G",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.1:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.1:p.Asp13Asn",
        "hgvsWellDefined": "ENSP00000429971.1:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 244,
          "referenceAllele": "G",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517772.5:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428717.1:p.Asp13Asn",
        "hgvsWellDefined": "ENSP00000428717.1:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 341,
          "referenceAllele": "G",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000519426.5:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430983.1:p.Asp95Asn",
        "hgvsWellDefined": "ENSP00000430983.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "G",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.1:c.*156G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.1:n.*156G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349826"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825334257",
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "referenceAllele": "G",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Asp13Asn",
        "hgvsWellDefined": "NP_001019859.1:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA160977",
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.283G>A",
        "LRG_158t1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Asp95Asn",
        "hgvsWellDefined": "NP_002476.2:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 274,
          "referenceAllele": "G",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Asp87Asn",
        "hgvsWellDefined": "XP_011515346.1:p.Asp87Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 326,
          "referenceAllele": "G",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Asp13Asn",
        "hgvsWellDefined": "XP_011515347.1:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517046.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515348.1:p.Asp95Asn",
        "hgvsWellDefined": "XP_011515348.1:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.420G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "referenceAllele": "G",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.-687G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:n.-687G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.-493G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:n.-493G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 423,
          "referenceAllele": "G",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Asp13Asn",
        "hgvsWellDefined": "XP_024302931.1:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 419,
          "referenceAllele": "G",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Asp13Asn",
        "hgvsWellDefined": "XP_024302932.1:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 378,
          "referenceAllele": "G",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.-687G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:n.-687G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA160977",
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Asp95Asn",
        "hgvsWellDefined": "NP_002476.2:p.Asp95Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.283G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.283G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Asp95Asn"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Asp95Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825334257",
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Asp13Asn",
        "hgvsWellDefined": "NP_001019859.1:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}