{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4802693",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.1657A>G (p.Met553Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=474847[alleleid]",
        "alleleId": 474847,
        "preferredName": "NM_002485.5(NBN):c.1657A>G (p.Met553Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/485916",
        "RCV": [
          "RCV000573104",
          "RCV000636736",
          "RCV000985868"
        ],
        "variationId": 485916
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-90965660-T-C",
        "id": "8-90965660-T-C",
        "variant": "8:90965660 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90965660T>C?assembly=hg19",
        "id": "chr8:g.90965660T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89953432T>C?assembly=hg38",
        "id": "chr8:g.89953432T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/746347634",
        "rs": 746347634
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-90965660-T-C?dataset=gnomad_r2_1",
        "id": "8-90965660-T-C",
        "variant": "8:90965660 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89953432-T-C?dataset=gnomad_r4",
        "id": "8-89953432-T-C",
        "variant": "8:89953432 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 89953432,
          "referenceAllele": "T",
          "start": 89953431
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89953432T>C",
        "CM000670.2:g.89953432T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 90965660,
          "referenceAllele": "T",
          "start": 90965659
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90965660T>C",
        "CM000670.1:g.90965660T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 91034836,
          "referenceAllele": "T",
          "start": 91034835
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91034836T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36240,
          "referenceAllele": "A",
          "start": 36239
        }
      ],
      "hgvs": [
        "NG_008860.1:g.36240A>G",
        "LRG_158:g.36240A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2959,
          "referenceAllele": "A",
          "start": 2958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.2959A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1705,
          "referenceAllele": "A",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.1411A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Met471Val",
        "hgvsWellDefined": "ENSP00000429971.2:p.Met471Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1870,
          "referenceAllele": "A",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.1411A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Met471Val",
        "hgvsWellDefined": "ENSP00000428252.2:p.Met471Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1778,
          "referenceAllele": "A",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.1657A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Met553Val",
        "hgvsWellDefined": "ENSP00000513229.1:p.Met553Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1767,
          "referenceAllele": "A",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.1657A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Met553Val",
        "hgvsWellDefined": "ENSP00000513230.1:p.Met553Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*1268A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*1268A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1197,
          "referenceAllele": "A",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*966A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*966A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1612,
          "referenceAllele": "A",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*1325A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*1325A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3442,
          "referenceAllele": "A",
          "start": 3441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.3442A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1996,
          "referenceAllele": "A",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.1411A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Met471Val",
        "hgvsWellDefined": "ENSP00000513234.1:p.Met471Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1629,
          "referenceAllele": "A",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.1411A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Met471Val",
        "hgvsWellDefined": "ENSP00000513235.1:p.Met471Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1903,
          "referenceAllele": "A",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*1261A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*1261A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1772,
          "referenceAllele": "A",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*1178A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*1178A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1722,
          "referenceAllele": "A",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*1178A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*1178A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1853,
          "referenceAllele": "A",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*1261A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*1261A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1455,
          "referenceAllele": "A",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.1345A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Met449Val",
        "hgvsWellDefined": "ENSP00000513240.1:p.Met449Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1249,
          "referenceAllele": "A",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*657A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*657A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1767,
          "referenceAllele": "A",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.1657A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Met553Val",
        "hgvsWellDefined": "ENSP00000513242.1:p.Met553Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1767,
          "referenceAllele": "A",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.1657A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Met553Val",
        "hgvsWellDefined": "ENSP00000513243.1:p.Met553Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1767,
          "referenceAllele": "A",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.1657A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Met553Val",
        "hgvsWellDefined": "ENSP00000513244.1:p.Met553Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1778,
          "referenceAllele": "A",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.1657A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Met553Val",
        "hgvsWellDefined": "ENSP00000513245.1:p.Met553Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1767,
          "referenceAllele": "A",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.1657A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Met553Val",
        "hgvsWellDefined": "ENSP00000513246.1:p.Met553Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1659,
          "referenceAllele": "A",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*1055A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*1055A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2687,
          "endIntronDirection": "+",
          "endIntronOffset": 16932,
          "referenceAllele": "A",
          "start": 2687,
          "startIntronDirection": "+",
          "startIntronOffset": 16931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2687+16932A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3448,
          "referenceAllele": "A",
          "start": 3447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3448A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1767,
          "referenceAllele": "A",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.1657A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Met553Val",
        "hgvsWellDefined": "ENSP00000513248.1:p.Met553Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1778,
          "referenceAllele": "A",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.1778A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1767,
          "referenceAllele": "A",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.1767A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1769,
          "referenceAllele": "A",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.1769A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "A",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.1657A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Met553Val",
        "hgvsWellDefined": "ENSP00000265433.4:p.Met553Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1657A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1657A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Met553Val"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Met553Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1812,
          "referenceAllele": "A",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.1657A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Met553Val",
        "hgvsWellDefined": "ENSP00000265433.3:p.Met553Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2053,
          "referenceAllele": "A",
          "start": 2052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*1530A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*1530A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1817,
          "referenceAllele": "A",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.1411A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Met471Val",
        "hgvsWellDefined": "ENSP00000386924.1:p.Met471Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335449",
      "coordinates": [
        {
          "allele": "G",
          "end": 1870,
          "referenceAllele": "A",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.1411A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Met471Val",
        "hgvsWellDefined": "NP_001019859.1:p.Met471Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658671985",
      "coordinates": [
        {
          "allele": "G",
          "end": 1767,
          "referenceAllele": "A",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.1657A>G",
        "LRG_158t1:c.1657A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Met553Val",
        "hgvsWellDefined": "NP_002476.2:p.Met553Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1648,
          "referenceAllele": "A",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.1633A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Met545Val",
        "hgvsWellDefined": "XP_011515346.1:p.Met545Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1700,
          "referenceAllele": "A",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.1411A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Met471Val",
        "hgvsWellDefined": "XP_011515347.1:p.Met471Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1796,
          "referenceAllele": "A",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.1796A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "referenceAllele": "A",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.778A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Met260Val",
        "hgvsWellDefined": "XP_016868949.1:p.Met260Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "referenceAllele": "A",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.778A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Met260Val",
        "hgvsWellDefined": "XP_016868951.1:p.Met260Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1797,
          "referenceAllele": "A",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.1411A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Met471Val",
        "hgvsWellDefined": "XP_024302931.1:p.Met471Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1793,
          "referenceAllele": "A",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.1411A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Met471Val",
        "hgvsWellDefined": "XP_024302932.1:p.Met471Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1842,
          "referenceAllele": "A",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.778A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Met260Val",
        "hgvsWellDefined": "XP_024302933.1:p.Met260Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658671985",
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "A",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.1657A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Met553Val",
        "hgvsWellDefined": "NP_002476.2:p.Met553Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1657A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1657A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Met553Val"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Met553Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335449",
      "coordinates": [
        {
          "allele": "G",
          "end": 1813,
          "referenceAllele": "A",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.1411A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Met471Val",
        "hgvsWellDefined": "NP_001019859.1:p.Met471Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}