{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA157116",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=24627",
        "active": true,
        "id": "COSM24627"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137358[alleleid]",
        "alleleId": 137358,
        "preferredName": "NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133619",
        "RCV": [
          "RCV000120137",
          "RCV000128897",
          "RCV000284881",
          "RCV000710672",
          "RCV003315726",
          "RCV002225360",
          "RCV003149821"
        ],
        "variationId": 133619
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108159732-C-T",
        "id": "11-108159732-C-T",
        "variant": "11:108159732 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108159732C>T?assembly=hg19",
        "id": "chr11:g.108159732C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108289005C>T?assembly=hg38",
        "id": "chr11:g.108289005C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3092856",
        "rs": 3092856
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108159732-C-T?dataset=gnomad_r2_1",
        "id": "11-108159732-C-T",
        "variant": "11:108159732 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108289005-C-T?dataset=gnomad_r3",
        "id": "11-108289005-C-T",
        "variant": "11:108289005 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108289005-C-T?dataset=gnomad_r4",
        "id": "11-108289005-C-T",
        "variant": "11:108289005 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108289005,
          "referenceAllele": "C",
          "start": 108289004
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108289005C>T",
        "CM000673.2:g.108289005C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108159732,
          "referenceAllele": "C",
          "start": 108159731
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108159732C>T",
        "CM000673.1:g.108159732C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 107664942,
          "referenceAllele": "C",
          "start": 107664941
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107664942C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 71174,
          "referenceAllele": "C",
          "start": 71173
        }
      ],
      "hgvs": [
        "NG_009830.1:g.71174C>T",
        "LRG_135:g.71174C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4620,
          "referenceAllele": "C",
          "start": 4619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.His1380Tyr",
        "hgvsWellDefined": "ENSP00000388058.2:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4266,
          "referenceAllele": "C",
          "start": 4265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*3609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*3609C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4444,
          "referenceAllele": "C",
          "start": 4443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.His1380Tyr",
        "hgvsWellDefined": "ENSP00000278616.4:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "C",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000533733.6:n.1401C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4288,
          "referenceAllele": "C",
          "start": 4287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.4288C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4287,
          "referenceAllele": "C",
          "start": 4286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:p.His1380Tyr",
        "hgvsWellDefined": "ENSP00000435747.2:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4105,
          "referenceAllele": "C",
          "start": 4104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.3973C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:p.His1325Tyr",
        "hgvsWellDefined": "ENSP00000502563.1:p.His1325Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4288,
          "referenceAllele": "C",
          "start": 4287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.His1380Tyr",
        "hgvsWellDefined": "ENSP00000501606.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.4138C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.4138C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.His1380Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.His1380Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4523,
          "referenceAllele": "C",
          "start": 4522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.His1380Tyr",
        "hgvsWellDefined": "ENSP00000278616.4:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4327,
          "referenceAllele": "C",
          "start": 4326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.His1380Tyr",
        "hgvsWellDefined": "ENSP00000388058.2:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000524792.5:n.353C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145,
          "referenceAllele": "C",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000531525.2:c.145C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434327.2:p.His49Tyr",
        "hgvsWellDefined": "ENSP00000434327.2:p.His49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000533733.5:n.567C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA157118",
      "coordinates": [
        {
          "allele": "T",
          "end": 4523,
          "referenceAllele": "C",
          "start": 4522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.4138C>T",
        "LRG_135t1:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.His1380Tyr",
        "hgvsWellDefined": "NP_000042.3:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4346,
          "referenceAllele": "C",
          "start": 4345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.His1380Tyr",
        "hgvsWellDefined": "XP_005271618.2:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4655,
          "referenceAllele": "C",
          "start": 4654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.His1380Tyr",
        "hgvsWellDefined": "XP_005271619.2:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4278,
          "referenceAllele": "C",
          "start": 4277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.His1380Tyr",
        "hgvsWellDefined": "XP_006718906.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 163,
          "referenceAllele": "C",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.1:c.94C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.His32Tyr",
        "hgvsWellDefined": "XP_006718908.1:p.His32Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4366,
          "referenceAllele": "C",
          "start": 4365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.His1380Tyr",
        "hgvsWellDefined": "XP_011541142.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5049,
          "referenceAllele": "C",
          "start": 5048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.His1380Tyr",
        "hgvsWellDefined": "XP_011541143.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4093,
          "referenceAllele": "C",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.3973C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.His1325Tyr",
        "hgvsWellDefined": "XP_011541144.1:p.His1325Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4855,
          "referenceAllele": "C",
          "start": 4854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.His1380Tyr",
        "hgvsWellDefined": "XP_011541145.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3639,
          "referenceAllele": "C",
          "start": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.3094C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.His1032Tyr",
        "hgvsWellDefined": "XP_011541146.1:p.His1032Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2986,
          "referenceAllele": "C",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.2830C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.His944Tyr",
        "hgvsWellDefined": "XP_011541147.1:p.His944Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4855,
          "referenceAllele": "C",
          "start": 4854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542846.1:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541148.1:p.His1380Tyr",
        "hgvsWellDefined": "XP_011541148.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916032963",
      "coordinates": [
        {
          "allele": "T",
          "end": 4611,
          "referenceAllele": "C",
          "start": 4610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.His1380Tyr",
        "hgvsWellDefined": "NP_001338763.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4657,
          "referenceAllele": "C",
          "start": 4656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.His1380Tyr",
        "hgvsWellDefined": "XP_005271619.2:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4290,
          "referenceAllele": "C",
          "start": 4289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.His1380Tyr",
        "hgvsWellDefined": "XP_006718906.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.2:c.94C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.His32Tyr",
        "hgvsWellDefined": "XP_006718908.1:p.His32Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4378,
          "referenceAllele": "C",
          "start": 4377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.His1380Tyr",
        "hgvsWellDefined": "XP_011541142.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4353,
          "referenceAllele": "C",
          "start": 4352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.3973C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.His1325Tyr",
        "hgvsWellDefined": "XP_011541144.1:p.His1325Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4871,
          "referenceAllele": "C",
          "start": 4870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.His1380Tyr",
        "hgvsWellDefined": "XP_011541145.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4474,
          "referenceAllele": "C",
          "start": 4473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.3094C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.His1032Tyr",
        "hgvsWellDefined": "XP_011541146.1:p.His1032Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2986,
          "referenceAllele": "C",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.2830C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.His944Tyr",
        "hgvsWellDefined": "XP_011541147.1:p.His944Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5081,
          "referenceAllele": "C",
          "start": 5080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.His1380Tyr",
        "hgvsWellDefined": "XP_016873278.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4478,
          "referenceAllele": "C",
          "start": 4477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.His1380Tyr",
        "hgvsWellDefined": "XP_016873279.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4871,
          "referenceAllele": "C",
          "start": 4870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017791.1:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873280.1:p.His1380Tyr",
        "hgvsWellDefined": "XP_016873280.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4871,
          "referenceAllele": "C",
          "start": 4870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017792.2:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873281.1:p.His1380Tyr",
        "hgvsWellDefined": "XP_016873281.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4871,
          "referenceAllele": "C",
          "start": 4870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XR_002957150.1:n.4871C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916032963",
      "coordinates": [
        {
          "allele": "T",
          "end": 4376,
          "referenceAllele": "C",
          "start": 4375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.His1380Tyr",
        "hgvsWellDefined": "NP_001338763.1:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA157118",
      "coordinates": [
        {
          "allele": "T",
          "end": 4288,
          "referenceAllele": "C",
          "start": 4287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.4138C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.His1380Tyr",
        "hgvsWellDefined": "NP_000042.3:p.His1380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.4138C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.4138C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.His1380Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.His1380Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}