{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371656334",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=911031[alleleid]",
        "alleleId": 911031,
        "preferredName": "NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/920157",
        "RCV": [
          "RCV001178736",
          "RCV001341643"
        ],
        "variationId": 920157
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90967688C>T?assembly=hg19",
        "id": "chr8:g.90967688C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89955460C>T?assembly=hg38",
        "id": "chr8:g.89955460C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1473253247",
        "rs": 1473253247
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-90967688-C-T?dataset=gnomad_r2_1",
        "id": "8-90967688-C-T",
        "variant": "8:90967688 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89955460-C-T?dataset=gnomad_r4",
        "id": "8-89955460-C-T",
        "variant": "8:89955460 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 89955460,
          "referenceAllele": "C",
          "start": 89955459
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89955460C>T",
        "CM000670.2:g.89955460C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 90967688,
          "referenceAllele": "C",
          "start": 90967687
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90967688C>T",
        "CM000670.1:g.90967688C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 91036864,
          "referenceAllele": "C",
          "start": 91036863
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91036864C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34212,
          "referenceAllele": "G",
          "start": 34211
        }
      ],
      "hgvs": [
        "NG_008860.1:g.34212G>A",
        "LRG_158:g.34212G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2522,
          "referenceAllele": "G",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.2522G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1268,
          "referenceAllele": "G",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.974G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Cys325Tyr",
        "hgvsWellDefined": "ENSP00000429971.2:p.Cys325Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1433,
          "referenceAllele": "G",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.974G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Cys325Tyr",
        "hgvsWellDefined": "ENSP00000428252.2:p.Cys325Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1341,
          "referenceAllele": "G",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Cys407Tyr",
        "hgvsWellDefined": "ENSP00000513229.1:p.Cys407Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Cys407Tyr",
        "hgvsWellDefined": "ENSP00000513230.1:p.Cys407Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*831G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*831G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*529G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*529G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*888G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*888G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3005,
          "referenceAllele": "G",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.3005G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1559,
          "referenceAllele": "G",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.974G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Cys325Tyr",
        "hgvsWellDefined": "ENSP00000513234.1:p.Cys325Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.974G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Cys325Tyr",
        "hgvsWellDefined": "ENSP00000513235.1:p.Cys325Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*824G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*824G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1335,
          "referenceAllele": "G",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*741G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*741G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1285,
          "referenceAllele": "G",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*741G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*741G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*824G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*824G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.908G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Cys303Tyr",
        "hgvsWellDefined": "ENSP00000513240.1:p.Cys303Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*220G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Cys407Tyr",
        "hgvsWellDefined": "ENSP00000513242.1:p.Cys407Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Cys407Tyr",
        "hgvsWellDefined": "ENSP00000513243.1:p.Cys407Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Cys407Tyr",
        "hgvsWellDefined": "ENSP00000513244.1:p.Cys407Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1341,
          "referenceAllele": "G",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Cys407Tyr",
        "hgvsWellDefined": "ENSP00000513245.1:p.Cys407Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Cys407Tyr",
        "hgvsWellDefined": "ENSP00000513246.1:p.Cys407Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1222,
          "referenceAllele": "G",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*618G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*618G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2687,
          "endIntronDirection": "+",
          "endIntronOffset": 14904,
          "referenceAllele": "G",
          "start": 2687,
          "startIntronDirection": "+",
          "startIntronOffset": 14903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2687+14904G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3011,
          "referenceAllele": "G",
          "start": 3010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3011G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Cys407Tyr",
        "hgvsWellDefined": "ENSP00000513248.1:p.Cys407Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1341,
          "referenceAllele": "G",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.1341G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.1330G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1332,
          "referenceAllele": "G",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.1332G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "referenceAllele": "G",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Cys407Tyr",
        "hgvsWellDefined": "ENSP00000265433.4:p.Cys407Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1220G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1220G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Cys407Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Cys407Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1375,
          "referenceAllele": "G",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Cys407Tyr",
        "hgvsWellDefined": "ENSP00000265433.3:p.Cys407Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1616,
          "referenceAllele": "G",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*1093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*1093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "referenceAllele": "G",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.974G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Cys325Tyr",
        "hgvsWellDefined": "ENSP00000386924.1:p.Cys325Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335015",
      "coordinates": [
        {
          "allele": "A",
          "end": 1433,
          "referenceAllele": "G",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.974G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Cys325Tyr",
        "hgvsWellDefined": "NP_001019859.1:p.Cys325Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139706659",
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.1220G>A",
        "LRG_158t1:c.1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Cys407Tyr",
        "hgvsWellDefined": "NP_002476.2:p.Cys407Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1211,
          "referenceAllele": "G",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.1196G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Cys399Tyr",
        "hgvsWellDefined": "XP_011515346.1:p.Cys399Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.974G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Cys325Tyr",
        "hgvsWellDefined": "XP_011515347.1:p.Cys325Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1357,
          "referenceAllele": "G",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517046.1:c.1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515348.1:p.Cys407Tyr",
        "hgvsWellDefined": "XP_011515348.1:p.Cys407Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1357,
          "referenceAllele": "G",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.1357G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Cys114Tyr",
        "hgvsWellDefined": "XP_016868949.1:p.Cys114Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1275,
          "referenceAllele": "G",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Cys114Tyr",
        "hgvsWellDefined": "XP_016868951.1:p.Cys114Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.974G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Cys325Tyr",
        "hgvsWellDefined": "XP_024302931.1:p.Cys325Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1356,
          "referenceAllele": "G",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.974G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Cys325Tyr",
        "hgvsWellDefined": "XP_024302932.1:p.Cys325Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "referenceAllele": "G",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Cys114Tyr",
        "hgvsWellDefined": "XP_024302933.1:p.Cys114Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139706659",
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "referenceAllele": "G",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Cys407Tyr",
        "hgvsWellDefined": "NP_002476.2:p.Cys407Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1220G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1220G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Cys407Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Cys407Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335015",
      "coordinates": [
        {
          "allele": "A",
          "end": 1376,
          "referenceAllele": "G",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.974G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Cys325Tyr",
        "hgvsWellDefined": "NP_001019859.1:p.Cys325Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}