{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6264991",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.2282C>G (p.Thr761Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2052325[alleleid]",
        "alleleId": 2052325,
        "preferredName": "NM_000051.4(ATM):c.2282C>G (p.Thr761Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2005561",
        "RCV": [
          "RCV002825311"
        ],
        "variationId": 2005561
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108128239-C-G",
        "id": "11-108128239-C-G",
        "variant": "11:108128239 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108128239C>G?assembly=hg19",
        "id": "chr11:g.108128239C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108257512C>G?assembly=hg38",
        "id": "chr11:g.108257512C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768430443",
        "rs": 768430443
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108128239-C-G?dataset=gnomad_r2_1",
        "id": "11-108128239-C-G",
        "variant": "11:108128239 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108257512-C-G?dataset=gnomad_r4",
        "id": "11-108257512-C-G",
        "variant": "11:108257512 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 108257512,
          "referenceAllele": "C",
          "start": 108257511
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108257512C>G",
        "CM000673.2:g.108257512C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 108128239,
          "referenceAllele": "C",
          "start": 108128238
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108128239C>G",
        "CM000673.1:g.108128239C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 107633449,
          "referenceAllele": "C",
          "start": 107633448
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107633449C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 39681,
          "referenceAllele": "C",
          "start": 39680
        }
      ],
      "hgvs": [
        "NG_009830.1:g.39681C>G",
        "LRG_135:g.39681C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2764,
          "referenceAllele": "C",
          "start": 2763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Thr761Ser",
        "hgvsWellDefined": "ENSP00000388058.2:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2410,
          "referenceAllele": "C",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*1753C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*1753C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2588,
          "referenceAllele": "C",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Thr761Ser",
        "hgvsWellDefined": "ENSP00000278616.4:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2416,
          "referenceAllele": "C",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682516.1:n.2416C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2432,
          "referenceAllele": "C",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.2432C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1777,
          "referenceAllele": "C",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683605.1:n.1777C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2425,
          "referenceAllele": "C",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684037.1:c.*1217C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508245.1:n.*1217C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2431,
          "referenceAllele": "C",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:p.Thr761Ser",
        "hgvsWellDefined": "ENSP00000435747.2:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2249,
          "referenceAllele": "C",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.2117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:p.Thr706Ser",
        "hgvsWellDefined": "ENSP00000502563.1:p.Thr706Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2432,
          "referenceAllele": "C",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Thr761Ser",
        "hgvsWellDefined": "ENSP00000501606.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.2282C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.2282C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Thr761Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Thr761Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2667,
          "referenceAllele": "C",
          "start": 2666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Thr761Ser",
        "hgvsWellDefined": "ENSP00000278616.4:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2471,
          "referenceAllele": "C",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Thr761Ser",
        "hgvsWellDefined": "ENSP00000388058.2:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3015,
          "referenceAllele": "C",
          "start": 3014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.5:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.1:p.Thr761Ser",
        "hgvsWellDefined": "ENSP00000435747.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353439"
    },
    {
      "@id": "http://reg.genome.network/allele/PA294033",
      "coordinates": [
        {
          "allele": "G",
          "end": 2667,
          "referenceAllele": "C",
          "start": 2666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.2282C>G",
        "LRG_135t1:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Thr761Ser",
        "hgvsWellDefined": "NP_000042.3:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2490,
          "referenceAllele": "C",
          "start": 2489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Thr761Ser",
        "hgvsWellDefined": "XP_005271618.2:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2799,
          "referenceAllele": "C",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Thr761Ser",
        "hgvsWellDefined": "XP_005271619.2:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2422,
          "referenceAllele": "C",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Thr761Ser",
        "hgvsWellDefined": "XP_006718906.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2510,
          "referenceAllele": "C",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Thr761Ser",
        "hgvsWellDefined": "XP_011541142.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3193,
          "referenceAllele": "C",
          "start": 3192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Thr761Ser",
        "hgvsWellDefined": "XP_011541143.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2237,
          "referenceAllele": "C",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.2117C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Thr706Ser",
        "hgvsWellDefined": "XP_011541144.1:p.Thr706Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2999,
          "referenceAllele": "C",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Thr761Ser",
        "hgvsWellDefined": "XP_011541145.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1783,
          "referenceAllele": "C",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.1238C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Thr413Ser",
        "hgvsWellDefined": "XP_011541146.1:p.Thr413Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.974C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Thr325Ser",
        "hgvsWellDefined": "XP_011541147.1:p.Thr325Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2999,
          "referenceAllele": "C",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542846.1:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541148.1:p.Thr761Ser",
        "hgvsWellDefined": "XP_011541148.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916032121",
      "coordinates": [
        {
          "allele": "G",
          "end": 2755,
          "referenceAllele": "C",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Thr761Ser",
        "hgvsWellDefined": "NP_001338763.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2801,
          "referenceAllele": "C",
          "start": 2800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Thr761Ser",
        "hgvsWellDefined": "XP_005271619.2:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Thr761Ser",
        "hgvsWellDefined": "XP_006718906.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2522,
          "referenceAllele": "C",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Thr761Ser",
        "hgvsWellDefined": "XP_011541142.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2497,
          "referenceAllele": "C",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.2117C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Thr706Ser",
        "hgvsWellDefined": "XP_011541144.1:p.Thr706Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3015,
          "referenceAllele": "C",
          "start": 3014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Thr761Ser",
        "hgvsWellDefined": "XP_011541145.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2618,
          "referenceAllele": "C",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.1238C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Thr413Ser",
        "hgvsWellDefined": "XP_011541146.1:p.Thr413Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.974C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Thr325Ser",
        "hgvsWellDefined": "XP_011541147.1:p.Thr325Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3225,
          "referenceAllele": "C",
          "start": 3224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Thr761Ser",
        "hgvsWellDefined": "XP_016873278.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2622,
          "referenceAllele": "C",
          "start": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Thr761Ser",
        "hgvsWellDefined": "XP_016873279.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3015,
          "referenceAllele": "C",
          "start": 3014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017791.1:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873280.1:p.Thr761Ser",
        "hgvsWellDefined": "XP_016873280.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3015,
          "referenceAllele": "C",
          "start": 3014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017792.2:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873281.1:p.Thr761Ser",
        "hgvsWellDefined": "XP_016873281.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3015,
          "referenceAllele": "C",
          "start": 3014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XR_002957150.1:n.3015C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916032121",
      "coordinates": [
        {
          "allele": "G",
          "end": 2520,
          "referenceAllele": "C",
          "start": 2519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Thr761Ser",
        "hgvsWellDefined": "NP_001338763.1:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA294033",
      "coordinates": [
        {
          "allele": "G",
          "end": 2432,
          "referenceAllele": "C",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.2282C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Thr761Ser",
        "hgvsWellDefined": "NP_000042.3:p.Thr761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.2282C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.2282C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Thr761Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Thr761Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}