{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA157062",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137342[alleleid]",
        "alleleId": 137342,
        "preferredName": "NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133603",
        "RCV": [
          "RCV000120116",
          "RCV000122821",
          "RCV000129230",
          "RCV000515290",
          "RCV000589072",
          "RCV001355212",
          "RCV001798377",
          "RCV002243780",
          "RCV001843478"
        ],
        "variationId": 133603
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108121787-G-A",
        "id": "11-108121787-G-A",
        "variant": "11:108121787 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108121787G>A?assembly=hg19",
        "id": "chr11:g.108121787G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108251060G>A?assembly=hg38",
        "id": "chr11:g.108251060G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35963548",
        "rs": 35963548
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108121787-G-A?dataset=gnomad_r2_1",
        "id": "11-108121787-G-A",
        "variant": "11:108121787 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108251060-G-A?dataset=gnomad_r3",
        "id": "11-108251060-G-A",
        "variant": "11:108251060 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108251060-G-A?dataset=gnomad_r4",
        "id": "11-108251060-G-A",
        "variant": "11:108251060 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108251060,
          "referenceAllele": "G",
          "start": 108251059
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108251060G>A",
        "CM000673.2:g.108251060G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108121787,
          "referenceAllele": "G",
          "start": 108121786
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108121787G>A",
        "CM000673.1:g.108121787G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 107626997,
          "referenceAllele": "G",
          "start": 107626996
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107626997G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33229,
          "referenceAllele": "G",
          "start": 33228
        }
      ],
      "hgvs": [
        "NG_009830.1:g.33229G>A",
        "LRG_135:g.33229G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2077,
          "referenceAllele": "G",
          "start": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Cys532Tyr",
        "hgvsWellDefined": "ENSP00000388058.2:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1723,
          "referenceAllele": "G",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*1066G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*1066G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1901,
          "referenceAllele": "G",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Cys532Tyr",
        "hgvsWellDefined": "ENSP00000278616.4:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1729,
          "referenceAllele": "G",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682516.1:n.1729G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1729,
          "referenceAllele": "G",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682956.1:n.1729G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.1745G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1090,
          "referenceAllele": "G",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683605.1:n.1090G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1738,
          "referenceAllele": "G",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684037.1:c.*530G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508245.1:n.*530G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1729,
          "referenceAllele": "G",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684061.1:n.1729G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1564,
          "referenceAllele": "G",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684179.1:n.1564G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:p.Cys532Tyr",
        "hgvsWellDefined": "ENSP00000435747.2:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1562,
          "referenceAllele": "G",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.1430G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:p.Cys477Tyr",
        "hgvsWellDefined": "ENSP00000502563.1:p.Cys477Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Cys532Tyr",
        "hgvsWellDefined": "ENSP00000501606.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.1595G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.1595G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Cys532Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Cys532Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Cys532Tyr",
        "hgvsWellDefined": "ENSP00000278616.4:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1784,
          "referenceAllele": "G",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Cys532Tyr",
        "hgvsWellDefined": "ENSP00000388058.2:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2328,
          "referenceAllele": "G",
          "start": 2327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.5:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.1:p.Cys532Tyr",
        "hgvsWellDefined": "ENSP00000435747.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353439"
    },
    {
      "@id": "http://reg.genome.network/allele/PA157064",
      "coordinates": [
        {
          "allele": "A",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.1595G>A",
        "LRG_135t1:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Cys532Tyr",
        "hgvsWellDefined": "NP_000042.3:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "referenceAllele": "G",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Cys532Tyr",
        "hgvsWellDefined": "XP_005271618.2:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2112,
          "referenceAllele": "G",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Cys532Tyr",
        "hgvsWellDefined": "XP_005271619.2:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1735,
          "referenceAllele": "G",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Cys532Tyr",
        "hgvsWellDefined": "XP_006718906.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Cys532Tyr",
        "hgvsWellDefined": "XP_011541142.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2506,
          "referenceAllele": "G",
          "start": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Cys532Tyr",
        "hgvsWellDefined": "XP_011541143.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1550,
          "referenceAllele": "G",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.1430G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Cys477Tyr",
        "hgvsWellDefined": "XP_011541144.1:p.Cys477Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2312,
          "referenceAllele": "G",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Cys532Tyr",
        "hgvsWellDefined": "XP_011541145.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.551G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Cys184Tyr",
        "hgvsWellDefined": "XP_011541146.1:p.Cys184Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.287G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Cys96Tyr",
        "hgvsWellDefined": "XP_011541147.1:p.Cys96Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2312,
          "referenceAllele": "G",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542846.1:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541148.1:p.Cys532Tyr",
        "hgvsWellDefined": "XP_011541148.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916031837",
      "coordinates": [
        {
          "allele": "A",
          "end": 2068,
          "referenceAllele": "G",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Cys532Tyr",
        "hgvsWellDefined": "NP_001338763.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2114,
          "referenceAllele": "G",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Cys532Tyr",
        "hgvsWellDefined": "XP_005271619.2:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "referenceAllele": "G",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Cys532Tyr",
        "hgvsWellDefined": "XP_006718906.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1835,
          "referenceAllele": "G",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Cys532Tyr",
        "hgvsWellDefined": "XP_011541142.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.1430G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Cys477Tyr",
        "hgvsWellDefined": "XP_011541144.1:p.Cys477Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2328,
          "referenceAllele": "G",
          "start": 2327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Cys532Tyr",
        "hgvsWellDefined": "XP_011541145.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1931,
          "referenceAllele": "G",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.551G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Cys184Tyr",
        "hgvsWellDefined": "XP_011541146.1:p.Cys184Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.287G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Cys96Tyr",
        "hgvsWellDefined": "XP_011541147.1:p.Cys96Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2538,
          "referenceAllele": "G",
          "start": 2537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Cys532Tyr",
        "hgvsWellDefined": "XP_016873278.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1935,
          "referenceAllele": "G",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Cys532Tyr",
        "hgvsWellDefined": "XP_016873279.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2328,
          "referenceAllele": "G",
          "start": 2327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017791.1:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873280.1:p.Cys532Tyr",
        "hgvsWellDefined": "XP_016873280.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2328,
          "referenceAllele": "G",
          "start": 2327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017792.2:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873281.1:p.Cys532Tyr",
        "hgvsWellDefined": "XP_016873281.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2328,
          "referenceAllele": "G",
          "start": 2327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XR_002957150.1:n.2328G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916031837",
      "coordinates": [
        {
          "allele": "A",
          "end": 1833,
          "referenceAllele": "G",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Cys532Tyr",
        "hgvsWellDefined": "NP_001338763.1:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA157064",
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.1595G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Cys532Tyr",
        "hgvsWellDefined": "NP_000042.3:p.Cys532Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.1595G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.1595G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Cys532Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Cys532Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}