{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371656824",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.995G>A (p.Gly332Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1055750[alleleid]",
        "alleleId": 1055750,
        "preferredName": "NM_002485.5(NBN):c.995G>A (p.Gly332Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1066748",
        "RCV": [
          "RCV001377833"
        ],
        "variationId": 1066748
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90971082C>T?assembly=hg19",
        "id": "chr8:g.90971082C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89958854C>T?assembly=hg38",
        "id": "chr8:g.89958854C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2129747182",
        "rs": 2129747182
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89958854-C-T?dataset=gnomad_r4",
        "id": "8-89958854-C-T",
        "variant": "8:89958854 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 89958854,
          "referenceAllele": "C",
          "start": 89958853
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89958854C>T",
        "CM000670.2:g.89958854C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 90971082,
          "referenceAllele": "C",
          "start": 90971081
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90971082C>T",
        "CM000670.1:g.90971082C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 91040258,
          "referenceAllele": "C",
          "start": 91040257
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91040258C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30818,
          "referenceAllele": "G",
          "start": 30817
        }
      ],
      "hgvs": [
        "NG_008860.1:g.30818G>A",
        "LRG_158:g.30818G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2297,
          "referenceAllele": "G",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.2297G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.749G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Gly250Glu",
        "hgvsWellDefined": "ENSP00000429971.2:p.Gly250Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1208,
          "referenceAllele": "G",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.749G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Gly250Glu",
        "hgvsWellDefined": "ENSP00000428252.2:p.Gly250Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1116,
          "referenceAllele": "G",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Gly332Glu",
        "hgvsWellDefined": "ENSP00000513229.1:p.Gly332Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Gly332Glu",
        "hgvsWellDefined": "ENSP00000513230.1:p.Gly332Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1081,
          "referenceAllele": "G",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*606G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*606G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*304G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*304G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*663G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*663G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2780,
          "referenceAllele": "G",
          "start": 2779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.2780G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.749G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Gly250Glu",
        "hgvsWellDefined": "ENSP00000513234.1:p.Gly250Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 967,
          "referenceAllele": "G",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.749G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Gly250Glu",
        "hgvsWellDefined": "ENSP00000513235.1:p.Gly250Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1241,
          "referenceAllele": "G",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*599G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*516G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*516G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*516G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*516G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1191,
          "referenceAllele": "G",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*599G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 793,
          "referenceAllele": "G",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.683G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Gly228Glu",
        "hgvsWellDefined": "ENSP00000513240.1:p.Gly228Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 587,
          "referenceAllele": "G",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.481G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:p.Asp161Asn",
        "hgvsWellDefined": "ENSP00000513241.1:p.Asp161Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Gly332Glu",
        "hgvsWellDefined": "ENSP00000513242.1:p.Gly332Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Gly332Glu",
        "hgvsWellDefined": "ENSP00000513243.1:p.Gly332Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Gly332Glu",
        "hgvsWellDefined": "ENSP00000513244.1:p.Gly332Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1116,
          "referenceAllele": "G",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Gly332Glu",
        "hgvsWellDefined": "ENSP00000513245.1:p.Gly332Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Gly332Glu",
        "hgvsWellDefined": "ENSP00000513246.1:p.Gly332Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*393G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*393G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2687,
          "endIntronDirection": "+",
          "endIntronOffset": 11510,
          "referenceAllele": "G",
          "start": 2687,
          "startIntronDirection": "+",
          "startIntronOffset": 11509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2687+11510G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.2786G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Gly332Glu",
        "hgvsWellDefined": "ENSP00000513248.1:p.Gly332Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1116,
          "referenceAllele": "G",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.1116G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.1105G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1107,
          "referenceAllele": "G",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.1107G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Gly332Glu",
        "hgvsWellDefined": "ENSP00000265433.4:p.Gly332Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.995G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.995G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Gly332Glu"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Gly332Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1150,
          "referenceAllele": "G",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Gly332Glu",
        "hgvsWellDefined": "ENSP00000265433.3:p.Gly332Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1391,
          "referenceAllele": "G",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*868G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*868G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.749G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Gly250Glu",
        "hgvsWellDefined": "ENSP00000386924.1:p.Gly250Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825334792",
      "coordinates": [
        {
          "allele": "A",
          "end": 1208,
          "referenceAllele": "G",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.749G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Gly250Glu",
        "hgvsWellDefined": "NP_001019859.1:p.Gly250Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499261711",
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.995G>A",
        "LRG_158t1:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Gly332Glu",
        "hgvsWellDefined": "NP_002476.2:p.Gly332Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.971G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Gly324Glu",
        "hgvsWellDefined": "XP_011515346.1:p.Gly324Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1038,
          "referenceAllele": "G",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.749G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Gly250Glu",
        "hgvsWellDefined": "XP_011515347.1:p.Gly250Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1132,
          "referenceAllele": "G",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517046.1:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515348.1:p.Gly332Glu",
        "hgvsWellDefined": "XP_011515348.1:p.Gly332Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1132,
          "referenceAllele": "G",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.1132G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1189,
          "referenceAllele": "G",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Gly39Glu",
        "hgvsWellDefined": "XP_016868949.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1050,
          "referenceAllele": "G",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Gly39Glu",
        "hgvsWellDefined": "XP_016868951.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1135,
          "referenceAllele": "G",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.749G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Gly250Glu",
        "hgvsWellDefined": "XP_024302931.1:p.Gly250Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1131,
          "referenceAllele": "G",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.749G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Gly250Glu",
        "hgvsWellDefined": "XP_024302932.1:p.Gly250Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Gly39Glu",
        "hgvsWellDefined": "XP_024302933.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499261711",
      "coordinates": [
        {
          "allele": "A",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Gly332Glu",
        "hgvsWellDefined": "NP_002476.2:p.Gly332Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.995G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.995G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Gly332Glu"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Gly332Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825334792",
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.749G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Gly250Glu",
        "hgvsWellDefined": "NP_001019859.1:p.Gly250Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}