{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA186974",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.3467C>T (p.Thr1156Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183241[alleleid]",
        "alleleId": 183241,
        "preferredName": "NM_000051.4(ATM):c.3467C>T (p.Thr1156Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183918",
        "RCV": [
          "RCV000162792",
          "RCV000167875",
          "RCV000478106",
          "RCV001354530",
          "RCV003479031",
          "RCV004551382"
        ],
        "variationId": 183918
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108151786-C-T",
        "id": "11-108151786-C-T",
        "variant": "11:108151786 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108151786C>T?assembly=hg19",
        "id": "chr11:g.108151786C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108281059C>T?assembly=hg38",
        "id": "chr11:g.108281059C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759951393",
        "rs": 759951393
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108151786-C-T?dataset=gnomad_r2_1",
        "id": "11-108151786-C-T",
        "variant": "11:108151786 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108281059-C-T?dataset=gnomad_r3",
        "id": "11-108281059-C-T",
        "variant": "11:108281059 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108281059-C-T?dataset=gnomad_r4",
        "id": "11-108281059-C-T",
        "variant": "11:108281059 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108281059,
          "referenceAllele": "C",
          "start": 108281058
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108281059C>T",
        "CM000673.2:g.108281059C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108151786,
          "referenceAllele": "C",
          "start": 108151785
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108151786C>T",
        "CM000673.1:g.108151786C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 107656996,
          "referenceAllele": "C",
          "start": 107656995
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107656996C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63228,
          "referenceAllele": "C",
          "start": 63227
        }
      ],
      "hgvs": [
        "NG_009830.1:g.63228C>T",
        "LRG_135:g.63228C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3949,
          "referenceAllele": "C",
          "start": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Thr1156Met",
        "hgvsWellDefined": "ENSP00000388058.2:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3595,
          "referenceAllele": "C",
          "start": 3594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*2938C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*2938C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3773,
          "referenceAllele": "C",
          "start": 3772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Thr1156Met",
        "hgvsWellDefined": "ENSP00000278616.4:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3617,
          "referenceAllele": "C",
          "start": 3616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.3617C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3616,
          "referenceAllele": "C",
          "start": 3615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:p.Thr1156Met",
        "hgvsWellDefined": "ENSP00000435747.2:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3434,
          "referenceAllele": "C",
          "start": 3433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.3302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:p.Thr1101Met",
        "hgvsWellDefined": "ENSP00000502563.1:p.Thr1101Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3617,
          "referenceAllele": "C",
          "start": 3616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Thr1156Met",
        "hgvsWellDefined": "ENSP00000501606.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.3467C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.3467C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Thr1156Met"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Thr1156Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3852,
          "referenceAllele": "C",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Thr1156Met",
        "hgvsWellDefined": "ENSP00000278616.4:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3656,
          "referenceAllele": "C",
          "start": 3655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Thr1156Met",
        "hgvsWellDefined": "ENSP00000388058.2:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4200,
          "referenceAllele": "C",
          "start": 4199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.5:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.1:p.Thr1156Met",
        "hgvsWellDefined": "ENSP00000435747.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353439"
    },
    {
      "@id": "http://reg.genome.network/allele/PA186976",
      "coordinates": [
        {
          "allele": "T",
          "end": 3852,
          "referenceAllele": "C",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.3467C>T",
        "LRG_135t1:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Thr1156Met",
        "hgvsWellDefined": "NP_000042.3:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3675,
          "referenceAllele": "C",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Thr1156Met",
        "hgvsWellDefined": "XP_005271618.2:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3984,
          "referenceAllele": "C",
          "start": 3983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Thr1156Met",
        "hgvsWellDefined": "XP_005271619.2:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3607,
          "referenceAllele": "C",
          "start": 3606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Thr1156Met",
        "hgvsWellDefined": "XP_006718906.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3695,
          "referenceAllele": "C",
          "start": 3694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Thr1156Met",
        "hgvsWellDefined": "XP_011541142.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4378,
          "referenceAllele": "C",
          "start": 4377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Thr1156Met",
        "hgvsWellDefined": "XP_011541143.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3422,
          "referenceAllele": "C",
          "start": 3421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.3302C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Thr1101Met",
        "hgvsWellDefined": "XP_011541144.1:p.Thr1101Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4184,
          "referenceAllele": "C",
          "start": 4183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Thr1156Met",
        "hgvsWellDefined": "XP_011541145.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2968,
          "referenceAllele": "C",
          "start": 2967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.2423C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Thr808Met",
        "hgvsWellDefined": "XP_011541146.1:p.Thr808Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2315,
          "referenceAllele": "C",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.2159C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Thr720Met",
        "hgvsWellDefined": "XP_011541147.1:p.Thr720Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4184,
          "referenceAllele": "C",
          "start": 4183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542846.1:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541148.1:p.Thr1156Met",
        "hgvsWellDefined": "XP_011541148.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916032690",
      "coordinates": [
        {
          "allele": "T",
          "end": 3940,
          "referenceAllele": "C",
          "start": 3939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Thr1156Met",
        "hgvsWellDefined": "NP_001338763.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3986,
          "referenceAllele": "C",
          "start": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Thr1156Met",
        "hgvsWellDefined": "XP_005271619.2:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3619,
          "referenceAllele": "C",
          "start": 3618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Thr1156Met",
        "hgvsWellDefined": "XP_006718906.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3707,
          "referenceAllele": "C",
          "start": 3706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Thr1156Met",
        "hgvsWellDefined": "XP_011541142.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3682,
          "referenceAllele": "C",
          "start": 3681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.3302C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Thr1101Met",
        "hgvsWellDefined": "XP_011541144.1:p.Thr1101Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4200,
          "referenceAllele": "C",
          "start": 4199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Thr1156Met",
        "hgvsWellDefined": "XP_011541145.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3803,
          "referenceAllele": "C",
          "start": 3802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.2423C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Thr808Met",
        "hgvsWellDefined": "XP_011541146.1:p.Thr808Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2315,
          "referenceAllele": "C",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.2159C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Thr720Met",
        "hgvsWellDefined": "XP_011541147.1:p.Thr720Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4410,
          "referenceAllele": "C",
          "start": 4409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Thr1156Met",
        "hgvsWellDefined": "XP_016873278.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3807,
          "referenceAllele": "C",
          "start": 3806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Thr1156Met",
        "hgvsWellDefined": "XP_016873279.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4200,
          "referenceAllele": "C",
          "start": 4199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017791.1:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873280.1:p.Thr1156Met",
        "hgvsWellDefined": "XP_016873280.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4200,
          "referenceAllele": "C",
          "start": 4199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017792.2:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873281.1:p.Thr1156Met",
        "hgvsWellDefined": "XP_016873281.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4200,
          "referenceAllele": "C",
          "start": 4199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XR_002957150.1:n.4200C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916032690",
      "coordinates": [
        {
          "allele": "T",
          "end": 3705,
          "referenceAllele": "C",
          "start": 3704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Thr1156Met",
        "hgvsWellDefined": "NP_001338763.1:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA186976",
      "coordinates": [
        {
          "allele": "T",
          "end": 3617,
          "referenceAllele": "C",
          "start": 3616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.3467C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Thr1156Met",
        "hgvsWellDefined": "NP_000042.3:p.Thr1156Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.3467C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.3467C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Thr1156Met"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Thr1156Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}