{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA230729",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132522[alleleid]",
        "alleleId": 132522,
        "preferredName": "NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127009",
        "RCV": [
          "RCV000114875",
          "RCV000115780",
          "RCV000123203",
          "RCV000212745",
          "RCV000757930",
          "RCV001358304",
          "RCV000515275"
        ],
        "variationId": 127009
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-90967646-A-G",
        "id": "8-90967646-A-G",
        "variant": "8:90967646 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90967646A>G?assembly=hg19",
        "id": "chr8:g.90967646A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89955418A>G?assembly=hg38",
        "id": "chr8:g.89955418A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104895032",
        "rs": 104895032
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-90967646-A-G?dataset=gnomad_r2_1",
        "id": "8-90967646-A-G",
        "variant": "8:90967646 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89955418-A-G?dataset=gnomad_r3",
        "id": "8-89955418-A-G",
        "variant": "8:89955418 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89955418-A-G?dataset=gnomad_r4",
        "id": "8-89955418-A-G",
        "variant": "8:89955418 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 89955418,
          "referenceAllele": "A",
          "start": 89955417
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89955418A>G",
        "CM000670.2:g.89955418A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 90967646,
          "referenceAllele": "A",
          "start": 90967645
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90967646A>G",
        "CM000670.1:g.90967646A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 91036822,
          "referenceAllele": "A",
          "start": 91036821
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91036822A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34254,
          "referenceAllele": "T",
          "start": 34253
        }
      ],
      "hgvs": [
        "NG_008860.1:g.34254T>C",
        "LRG_158:g.34254T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.2564T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1310,
          "referenceAllele": "T",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.1016T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Leu339Ser",
        "hgvsWellDefined": "ENSP00000429971.2:p.Leu339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1475,
          "referenceAllele": "T",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.1016T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Leu339Ser",
        "hgvsWellDefined": "ENSP00000428252.2:p.Leu339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1383,
          "referenceAllele": "T",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Leu421Ser",
        "hgvsWellDefined": "ENSP00000513229.1:p.Leu421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "T",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Leu421Ser",
        "hgvsWellDefined": "ENSP00000513230.1:p.Leu421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1348,
          "referenceAllele": "T",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*873T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*873T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 802,
          "referenceAllele": "T",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*571T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*571T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1217,
          "referenceAllele": "T",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*930T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*930T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3047,
          "referenceAllele": "T",
          "start": 3046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.3047T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1601,
          "referenceAllele": "T",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.1016T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Leu339Ser",
        "hgvsWellDefined": "ENSP00000513234.1:p.Leu339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1234,
          "referenceAllele": "T",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.1016T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Leu339Ser",
        "hgvsWellDefined": "ENSP00000513235.1:p.Leu339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1508,
          "referenceAllele": "T",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*866T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*866T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1377,
          "referenceAllele": "T",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*783T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*783T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1327,
          "referenceAllele": "T",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*783T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*783T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1458,
          "referenceAllele": "T",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*866T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*866T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "referenceAllele": "T",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.950T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Leu317Ser",
        "hgvsWellDefined": "ENSP00000513240.1:p.Leu317Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 854,
          "referenceAllele": "T",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*262T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "T",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Leu421Ser",
        "hgvsWellDefined": "ENSP00000513242.1:p.Leu421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "T",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Leu421Ser",
        "hgvsWellDefined": "ENSP00000513243.1:p.Leu421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "T",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Leu421Ser",
        "hgvsWellDefined": "ENSP00000513244.1:p.Leu421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1383,
          "referenceAllele": "T",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Leu421Ser",
        "hgvsWellDefined": "ENSP00000513245.1:p.Leu421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "T",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Leu421Ser",
        "hgvsWellDefined": "ENSP00000513246.1:p.Leu421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1264,
          "referenceAllele": "T",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*660T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*660T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2687,
          "endIntronDirection": "+",
          "endIntronOffset": 14946,
          "referenceAllele": "T",
          "start": 2687,
          "startIntronDirection": "+",
          "startIntronOffset": 14945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2687+14946T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3053,
          "referenceAllele": "T",
          "start": 3052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3053T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "T",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Leu421Ser",
        "hgvsWellDefined": "ENSP00000513248.1:p.Leu421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1383,
          "referenceAllele": "T",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.1383T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "T",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.1372T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1374,
          "referenceAllele": "T",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.1374T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1368,
          "referenceAllele": "T",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Leu421Ser",
        "hgvsWellDefined": "ENSP00000265433.4:p.Leu421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1262T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1262T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Leu421Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Leu421Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1417,
          "referenceAllele": "T",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Leu421Ser",
        "hgvsWellDefined": "ENSP00000265433.3:p.Leu421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1658,
          "referenceAllele": "T",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*1135T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*1135T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "referenceAllele": "T",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.1016T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Leu339Ser",
        "hgvsWellDefined": "ENSP00000386924.1:p.Leu339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335065",
      "coordinates": [
        {
          "allele": "C",
          "end": 1475,
          "referenceAllele": "T",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.1016T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Leu339Ser",
        "hgvsWellDefined": "NP_001019859.1:p.Leu339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA230731",
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "T",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.1262T>C",
        "LRG_158t1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Leu421Ser",
        "hgvsWellDefined": "NP_002476.2:p.Leu421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "T",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.1238T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Leu413Ser",
        "hgvsWellDefined": "XP_011515346.1:p.Leu413Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1305,
          "referenceAllele": "T",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.1016T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Leu339Ser",
        "hgvsWellDefined": "XP_011515347.1:p.Leu339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1399,
          "referenceAllele": "T",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517046.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515348.1:p.Leu421Ser",
        "hgvsWellDefined": "XP_011515348.1:p.Leu421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1399,
          "referenceAllele": "T",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.1399T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1456,
          "referenceAllele": "T",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.383T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Leu128Ser",
        "hgvsWellDefined": "XP_016868949.1:p.Leu128Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1317,
          "referenceAllele": "T",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.383T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Leu128Ser",
        "hgvsWellDefined": "XP_016868951.1:p.Leu128Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1402,
          "referenceAllele": "T",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.1016T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Leu339Ser",
        "hgvsWellDefined": "XP_024302931.1:p.Leu339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1398,
          "referenceAllele": "T",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.1016T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Leu339Ser",
        "hgvsWellDefined": "XP_024302932.1:p.Leu339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1447,
          "referenceAllele": "T",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.383T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Leu128Ser",
        "hgvsWellDefined": "XP_024302933.1:p.Leu128Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA230731",
      "coordinates": [
        {
          "allele": "C",
          "end": 1368,
          "referenceAllele": "T",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Leu421Ser",
        "hgvsWellDefined": "NP_002476.2:p.Leu421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.1262T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.1262T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Leu421Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Leu421Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335065",
      "coordinates": [
        {
          "allele": "C",
          "end": 1418,
          "referenceAllele": "T",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.1016T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Leu339Ser",
        "hgvsWellDefined": "NP_001019859.1:p.Leu339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}