{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA206703",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.278C>T (p.Ser93Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151941[alleleid]",
        "alleleId": 151941,
        "preferredName": "NM_002485.5(NBN):c.278C>T (p.Ser93Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142227",
        "RCV": [
          "RCV000131226",
          "RCV000193311",
          "RCV000168344",
          "RCV000586867",
          "RCV001354986"
        ],
        "variationId": 142227
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-90993645-G-A",
        "id": "8-90993645-G-A",
        "variant": "8:90993645 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90993645G>A?assembly=hg19",
        "id": "chr8:g.90993645G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89981417G>A?assembly=hg38",
        "id": "chr8:g.89981417G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12721593",
        "rs": 12721593
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-90993645-G-A?dataset=gnomad_r2_1",
        "id": "8-90993645-G-A",
        "variant": "8:90993645 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89981417-G-A?dataset=gnomad_r3",
        "id": "8-89981417-G-A",
        "variant": "8:89981417 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89981417-G-A?dataset=gnomad_r4",
        "id": "8-89981417-G-A",
        "variant": "8:89981417 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 89981417,
          "referenceAllele": "G",
          "start": 89981416
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89981417G>A",
        "CM000670.2:g.89981417G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 90993645,
          "referenceAllele": "G",
          "start": 90993644
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90993645G>A",
        "CM000670.1:g.90993645G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 91062821,
          "referenceAllele": "G",
          "start": 91062820
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91062821G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8255,
          "referenceAllele": "C",
          "start": 8254
        }
      ],
      "hgvs": [
        "NG_008860.1:g.8255C>T",
        "LRG_158:g.8255C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1580,
          "referenceAllele": "C",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.1580C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "C",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Ser11Leu",
        "hgvsWellDefined": "ENSP00000429971.2:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Ser11Leu",
        "hgvsWellDefined": "ENSP00000428252.2:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513229.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513230.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 315,
          "referenceAllele": "C",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513231.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 3108,
          "referenceAllele": "C",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 3107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.37+3108C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.37+3108C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 275,
          "endIntronDirection": "-",
          "endIntronOffset": 523,
          "referenceAllele": "C",
          "start": 275,
          "startIntronDirection": "-",
          "startIntronOffset": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.172-524C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.172-524C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.1582C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Ser11Leu",
        "hgvsWellDefined": "ENSP00000513234.1:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "referenceAllele": "C",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Ser11Leu",
        "hgvsWellDefined": "ENSP00000513235.1:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:p.Ser11Leu",
        "hgvsWellDefined": "ENSP00000513236.1:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:p.Ser11Leu",
        "hgvsWellDefined": "ENSP00000513237.1:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513238.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513239.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513240.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513241.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513242.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513243.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513244.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513245.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513246.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513247.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1588,
          "referenceAllele": "C",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.1588C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1588,
          "referenceAllele": "C",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.1588C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000513248.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.399C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.388C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.390C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000265433.4:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.278C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.278C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Ser93Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Ser93Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000265433.3:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "referenceAllele": "C",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*151C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*151C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Ser11Leu",
        "hgvsWellDefined": "ENSP00000386924.1:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "C",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.1:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.1:p.Ser11Leu",
        "hgvsWellDefined": "ENSP00000429971.1:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "referenceAllele": "C",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517772.5:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428717.1:p.Ser11Leu",
        "hgvsWellDefined": "ENSP00000428717.1:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 336,
          "referenceAllele": "C",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000519426.5:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430983.1:p.Ser93Leu",
        "hgvsWellDefined": "ENSP00000430983.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.1:c.*151C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.1:n.*151C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349826"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825334250",
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Ser11Leu",
        "hgvsWellDefined": "NP_001019859.1:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA206705",
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.278C>T",
        "LRG_158t1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Ser93Leu",
        "hgvsWellDefined": "NP_002476.2:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.254C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Ser85Leu",
        "hgvsWellDefined": "XP_011515346.1:p.Ser85Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "C",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Ser11Leu",
        "hgvsWellDefined": "XP_011515347.1:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517046.1:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515348.1:p.Ser93Leu",
        "hgvsWellDefined": "XP_011515348.1:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.415C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.-692C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:n.-692C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.-498C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:n.-498C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Ser11Leu",
        "hgvsWellDefined": "XP_024302931.1:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Ser11Leu",
        "hgvsWellDefined": "XP_024302932.1:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.-692C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:n.-692C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA206705",
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.278C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Ser93Leu",
        "hgvsWellDefined": "NP_002476.2:p.Ser93Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.278C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.278C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Ser93Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Ser93Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825334250",
      "coordinates": [
        {
          "allele": "T",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.32C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Ser11Leu",
        "hgvsWellDefined": "NP_001019859.1:p.Ser11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}