{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA157195",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.544G>C (p.Val182Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=136433[alleleid]",
        "alleleId": 136433,
        "preferredName": "NM_000051.4(ATM):c.544G>C (p.Val182Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/132685",
        "RCV": [
          "RCV000119106",
          "RCV000120166",
          "RCV000131001",
          "RCV000223988",
          "RCV002225343",
          "RCV001354360",
          "RCV003315697"
        ],
        "variationId": 132685
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108114727-G-C",
        "id": "11-108114727-G-C",
        "variant": "11:108114727 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108114727G>C?assembly=hg19",
        "id": "chr11:g.108114727G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108244000G>C?assembly=hg38",
        "id": "chr11:g.108244000G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3218707",
        "rs": 3218707
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108114727-G-C?dataset=gnomad_r2_1",
        "id": "11-108114727-G-C",
        "variant": "11:108114727 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108244000-G-C?dataset=gnomad_r3",
        "id": "11-108244000-G-C",
        "variant": "11:108244000 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108244000-G-C?dataset=gnomad_r4",
        "id": "11-108244000-G-C",
        "variant": "11:108244000 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 108244000,
          "referenceAllele": "G",
          "start": 108243999
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108244000G>C",
        "CM000673.2:g.108244000G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 108114727,
          "referenceAllele": "G",
          "start": 108114726
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108114727G>C",
        "CM000673.1:g.108114727G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 107619937,
          "referenceAllele": "G",
          "start": 107619936
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107619937G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26169,
          "referenceAllele": "G",
          "start": 26168
        }
      ],
      "hgvs": [
        "NG_009830.1:g.26169G>C",
        "LRG_135:g.26169G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Val182Leu",
        "hgvsWellDefined": "ENSP00000388058.2:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*15G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*15G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 850,
          "referenceAllele": "G",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Val182Leu",
        "hgvsWellDefined": "ENSP00000278616.4:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682430.1:n.643G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682516.1:n.678G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682956.1:n.678G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2222,
          "referenceAllele": "G",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683100.1:n.2222G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.694G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39,
          "referenceAllele": "G",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683605.1:n.39G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684037.1:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508245.1:p.Val182Leu",
        "hgvsWellDefined": "ENSP00000508245.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684061.1:n.678G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684179.1:n.513G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:p.Val182Leu",
        "hgvsWellDefined": "ENSP00000435747.2:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "G",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.379G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:p.Val127Leu",
        "hgvsWellDefined": "ENSP00000502563.1:p.Val127Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Val182Leu",
        "hgvsWellDefined": "ENSP00000501606.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.544G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.544G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Val182Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Val182Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 929,
          "referenceAllele": "G",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Val182Leu",
        "hgvsWellDefined": "ENSP00000278616.4:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Val182Leu",
        "hgvsWellDefined": "ENSP00000388058.2:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.5:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.1:p.Val182Leu",
        "hgvsWellDefined": "ENSP00000435747.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "G",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527891.5:c.379G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433955.1:p.Val127Leu",
        "hgvsWellDefined": "ENSP00000433955.1:p.Val127Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA157197",
      "coordinates": [
        {
          "allele": "C",
          "end": 929,
          "referenceAllele": "G",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.544G>C",
        "LRG_135t1:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Val182Leu",
        "hgvsWellDefined": "NP_000042.3:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 752,
          "referenceAllele": "G",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Val182Leu",
        "hgvsWellDefined": "XP_005271618.2:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1061,
          "referenceAllele": "G",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Val182Leu",
        "hgvsWellDefined": "XP_005271619.2:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Val182Leu",
        "hgvsWellDefined": "XP_006718906.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Val182Leu",
        "hgvsWellDefined": "XP_011541142.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1455,
          "referenceAllele": "G",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Val182Leu",
        "hgvsWellDefined": "XP_011541143.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 499,
          "referenceAllele": "G",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.379G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Val127Leu",
        "hgvsWellDefined": "XP_011541144.1:p.Val127Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Val182Leu",
        "hgvsWellDefined": "XP_011541145.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 45,
          "referenceAllele": "G",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.-501G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:n.-501G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542846.1:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541148.1:p.Val182Leu",
        "hgvsWellDefined": "XP_011541148.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916031355",
      "coordinates": [
        {
          "allele": "C",
          "end": 1017,
          "referenceAllele": "G",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Val182Leu",
        "hgvsWellDefined": "NP_001338763.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1063,
          "referenceAllele": "G",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Val182Leu",
        "hgvsWellDefined": "XP_005271619.2:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Val182Leu",
        "hgvsWellDefined": "XP_006718906.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 784,
          "referenceAllele": "G",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Val182Leu",
        "hgvsWellDefined": "XP_011541142.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.379G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Val127Leu",
        "hgvsWellDefined": "XP_011541144.1:p.Val127Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Val182Leu",
        "hgvsWellDefined": "XP_011541145.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.-501G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:n.-501G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1487,
          "referenceAllele": "G",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Val182Leu",
        "hgvsWellDefined": "XP_016873278.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Val182Leu",
        "hgvsWellDefined": "XP_016873279.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017791.1:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873280.1:p.Val182Leu",
        "hgvsWellDefined": "XP_016873280.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017792.2:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873281.1:p.Val182Leu",
        "hgvsWellDefined": "XP_016873281.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XR_002957150.1:n.1277G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916031355",
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Val182Leu",
        "hgvsWellDefined": "NP_001338763.1:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA157197",
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.544G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Val182Leu",
        "hgvsWellDefined": "NP_000042.3:p.Val182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.544G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.544G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Val182Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Val182Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}