{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA006656",
  "communityStandardTitle": [
    "NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2985338",
        "active": true,
        "id": "COSM2985338"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32129[alleleid]",
        "alleleId": 32129,
        "preferredName": "NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17090",
        "RCV": [
          "RCV000163055",
          "RCV000222490",
          "RCV000524247",
          "RCV001535418",
          "RCV000018621",
          "RCV000075342"
        ],
        "variationId": 17090
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-37089011-A-G",
        "id": "3-37089011-A-G",
        "variant": "3:37089011 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.37089011A>G?assembly=hg19",
        "id": "chr3:g.37089011A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.37047520A>G?assembly=hg38",
        "id": "chr3:g.37047520A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63751612",
        "rs": 63751612
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-37089011-A-G?dataset=gnomad_r2_1",
        "id": "3-37089011-A-G",
        "variant": "3:37089011 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-37047520-A-G?dataset=gnomad_r3",
        "id": "3-37047520-A-G",
        "variant": "3:37047520 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-37047520-A-G?dataset=gnomad_r4",
        "id": "3-37047520-A-G",
        "variant": "3:37047520 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 37047520,
          "referenceAllele": "A",
          "start": 37047519
        }
      ],
      "hgvs": [
        "NC_000003.12:g.37047520A>G",
        "CM000665.2:g.37047520A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 37089011,
          "referenceAllele": "A",
          "start": 37089010
        }
      ],
      "hgvs": [
        "NC_000003.11:g.37089011A>G",
        "CM000665.1:g.37089011A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 37064015,
          "referenceAllele": "A",
          "start": 37064014
        }
      ],
      "hgvs": [
        "NC_000003.10:g.37064015A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59171,
          "referenceAllele": "A",
          "start": 59170
        }
      ],
      "hgvs": [
        "NG_007109.2:g.59171A>G",
        "LRG_216:g.59171A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000485"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1858,
          "endIntronDirection": "-",
          "endIntronOffset": 2965,
          "referenceAllele": "A",
          "start": 1858,
          "startIntronDirection": "-",
          "startIntronOffset": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413740.2:c.1668-2966A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416476.2:n.1668-2966A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1751,
          "referenceAllele": "A",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000429117.6:c.1439A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407019.2:p.Glu480Gly",
        "hgvsWellDefined": "ENSP00000407019.2:p.Glu480Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1588,
          "endIntronDirection": "-",
          "endIntronOffset": 2965,
          "referenceAllele": "A",
          "start": 1588,
          "startIntronDirection": "-",
          "startIntronOffset": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000450420.6:c.1559-2966A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393006.2:n.1559-2966A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "A",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000456676.7:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416687.3:p.Glu578Gly",
        "hgvsWellDefined": "ENSP00000416687.3:p.Glu578Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1791,
          "referenceAllele": "A",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000492474.6:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518393.1:p.Glu337Gly",
        "hgvsWellDefined": "ENSP00000518393.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1809,
          "referenceAllele": "A",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000616768.6:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480669.3:p.Glu578Gly",
        "hgvsWellDefined": "ENSP00000480669.3:p.Glu578Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2053,
          "endIntronDirection": "-",
          "endIntronOffset": 996,
          "referenceAllele": "A",
          "start": 2053,
          "startIntronDirection": "-",
          "startIntronOffset": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673673.2:c.1732-997A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500979.2:n.1732-997A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "A",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000231790.8:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231790.3:p.Glu578Gly",
        "hgvsWellDefined": "ENSP00000231790.3:p.Glu578Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740875",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231790.8:c.1733A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000249.4:c.1733A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231790.3:p.Glu578Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000240.1:p.Glu578Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1475,
          "referenceAllele": "A",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413212.2:c.*651A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400844.2:n.*651A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1736,
          "referenceAllele": "A",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000432299.6:c.*1565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416783.1:n.*1565A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1765,
          "referenceAllele": "A",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000441265.6:c.946A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398392.2:p.Ser316Gly",
        "hgvsWellDefined": "ENSP00000398392.2:p.Ser316Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1555,
          "referenceAllele": "A",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000447829.6:c.*844A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399329.2:n.*844A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1612,
          "referenceAllele": "A",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000539477.6:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443665.1:p.Glu337Gly",
        "hgvsWellDefined": "ENSP00000443665.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "A",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000616768.5:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480669.2:p.Glu257Gly",
        "hgvsWellDefined": "ENSP00000480669.2:p.Glu257Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1684,
          "endIntronDirection": "-",
          "endIntronOffset": 996,
          "referenceAllele": "A",
          "start": 1684,
          "startIntronDirection": "-",
          "startIntronOffset": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673673.1:c.1685-997A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1758,
          "referenceAllele": "A",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673715.1:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501301.1:p.Glu578Gly",
        "hgvsWellDefined": "ENSP00000501301.1:p.Glu578Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 767,
          "referenceAllele": "A",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673741.1:n.767A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "A",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673889.1:n.1115A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1659,
          "referenceAllele": "A",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673897.1:c.*1525A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501109.1:n.*1525A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "A",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673899.1:c.1001A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501030.1:p.Glu334Gly",
        "hgvsWellDefined": "ENSP00000501030.1:p.Glu334Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1999,
          "referenceAllele": "A",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673947.1:c.*1873A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501304.1:n.*1873A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1761,
          "referenceAllele": "A",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673972.1:c.*1611A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501281.1:n.*1611A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1624,
          "referenceAllele": "A",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673990.1:n.1624A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1868,
          "referenceAllele": "A",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674019.1:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501081.1:p.Glu337Gly",
        "hgvsWellDefined": "ENSP00000501081.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1722,
          "referenceAllele": "A",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674111.1:c.1669A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501162.1:p.Ser557Gly",
        "hgvsWellDefined": "ENSP00000501162.1:p.Ser557Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 444,
          "referenceAllele": "A",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674125.1:n.444A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1949,
          "referenceAllele": "A",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000231790.6:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231790.2:p.Glu578Gly",
        "hgvsWellDefined": "ENSP00000231790.2:p.Glu578Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 290,
          "endIntronDirection": "-",
          "endIntronOffset": 2965,
          "referenceAllele": "A",
          "start": 290,
          "startIntronDirection": "-",
          "startIntronOffset": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413740.1:c.291-2966A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416476.1:n.291-2966A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1699,
          "referenceAllele": "A",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000435176.5:c.1439A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402564.1:p.Glu480Gly",
        "hgvsWellDefined": "ENSP00000402564.1:p.Glu480Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 181,
          "endIntronDirection": "-",
          "endIntronOffset": 2965,
          "referenceAllele": "A",
          "start": 181,
          "startIntronDirection": "-",
          "startIntronOffset": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000450420.5:c.182-2966A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393006.1:n.182-2966A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1705,
          "referenceAllele": "A",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000455445.6:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398272.2:p.Glu337Gly",
        "hgvsWellDefined": "ENSP00000398272.2:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1708,
          "referenceAllele": "A",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000456676.6:c.1708A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247416"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1877,
          "referenceAllele": "A",
          "start": 1876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000458205.6:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402667.2:p.Glu337Gly",
        "hgvsWellDefined": "ENSP00000402667.2:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1840,
          "referenceAllele": "A",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000536378.5:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444286.2:p.Glu337Gly",
        "hgvsWellDefined": "ENSP00000444286.2:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1639,
          "referenceAllele": "A",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000539477.5:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443665.1:p.Glu337Gly",
        "hgvsWellDefined": "ENSP00000443665.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000616768.4:c.501A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094125",
      "coordinates": [
        {
          "allele": "G",
          "end": 1931,
          "referenceAllele": "A",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_000249.3:c.1733A>G",
        "LRG_216t1:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000240.1:p.Glu578Gly",
        "hgvsWellDefined": "NP_000240.1:p.Glu578Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826039029",
      "coordinates": [
        {
          "allele": "G",
          "end": 1726,
          "referenceAllele": "A",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.1:c.1439A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:p.Glu480Gly",
        "hgvsWellDefined": "NP_001161089.1:p.Glu480Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826040871",
      "coordinates": [
        {
          "allele": "G",
          "end": 1726,
          "referenceAllele": "A",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.1:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001161090.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014973"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826042713",
      "coordinates": [
        {
          "allele": "G",
          "end": 1639,
          "referenceAllele": "A",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.1:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001161091.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826458498",
      "coordinates": [
        {
          "allele": "G",
          "end": 1931,
          "referenceAllele": "A",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258271.1:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245200.1:p.Glu578Gly",
        "hgvsWellDefined": "NP_001245200.1:p.Glu578Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826460086",
      "coordinates": [
        {
          "allele": "G",
          "end": 1840,
          "referenceAllele": "A",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258273.1:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245202.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001245202.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826461929",
      "coordinates": [
        {
          "allele": "G",
          "end": 1876,
          "referenceAllele": "A",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.1:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001245203.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1614,
          "referenceAllele": "A",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265161.1:c.1526A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265218.1:p.Glu509Gly",
        "hgvsWellDefined": "XP_005265218.1:p.Glu509Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1731,
          "referenceAllele": "A",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265163.1:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265220.1:p.Glu337Gly",
        "hgvsWellDefined": "XP_005265220.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1784,
          "referenceAllele": "A",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265164.1:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265221.1:p.Glu337Gly",
        "hgvsWellDefined": "XP_005265221.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1645,
          "referenceAllele": "A",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265166.1:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265223.1:p.Glu237Gly",
        "hgvsWellDefined": "XP_005265223.1:p.Glu237Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1491,
          "referenceAllele": "A",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_011533727.1:c.659A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532029.1:p.Glu220Gly",
        "hgvsWellDefined": "XP_011532029.1:p.Glu220Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826039029",
      "coordinates": [
        {
          "allele": "G",
          "end": 2153,
          "referenceAllele": "A",
          "start": 2152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.2:c.1439A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:p.Glu480Gly",
        "hgvsWellDefined": "NP_001161089.1:p.Glu480Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826040871",
      "coordinates": [
        {
          "allele": "G",
          "end": 2153,
          "referenceAllele": "A",
          "start": 2152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.2:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001161090.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826042713",
      "coordinates": [
        {
          "allele": "G",
          "end": 2066,
          "referenceAllele": "A",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.2:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001161091.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826461929",
      "coordinates": [
        {
          "allele": "G",
          "end": 2303,
          "referenceAllele": "A",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.2:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001245203.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511992"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827886093",
      "coordinates": [
        {
          "allele": "G",
          "end": 1834,
          "referenceAllele": "A",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354615.1:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341544.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001341544.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827887934",
      "coordinates": [
        {
          "allele": "G",
          "end": 1834,
          "referenceAllele": "A",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354616.1:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341545.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001341545.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522557"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827889779",
      "coordinates": [
        {
          "allele": "G",
          "end": 1926,
          "referenceAllele": "A",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354617.1:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341546.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001341546.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827891622",
      "coordinates": [
        {
          "allele": "G",
          "end": 2158,
          "referenceAllele": "A",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354618.1:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341547.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001341547.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827893229",
      "coordinates": [
        {
          "allele": "G",
          "end": 2282,
          "referenceAllele": "A",
          "start": 2281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354619.1:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341548.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001341548.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827895394",
      "coordinates": [
        {
          "allele": "G",
          "end": 1921,
          "referenceAllele": "A",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354620.1:c.1439A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341549.1:p.Glu480Gly",
        "hgvsWellDefined": "NP_001341549.1:p.Glu480Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827896862",
      "coordinates": [
        {
          "allele": "G",
          "end": 1951,
          "referenceAllele": "A",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354621.1:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341550.1:p.Glu237Gly",
        "hgvsWellDefined": "NP_001341550.1:p.Glu237Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827898331",
      "coordinates": [
        {
          "allele": "G",
          "end": 2064,
          "referenceAllele": "A",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354622.1:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341551.1:p.Glu237Gly",
        "hgvsWellDefined": "NP_001341551.1:p.Glu237Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827899616",
      "coordinates": [
        {
          "allele": "G",
          "end": 1973,
          "referenceAllele": "A",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354623.1:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341552.1:p.Glu237Gly",
        "hgvsWellDefined": "NP_001341552.1:p.Glu237Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827901026",
      "coordinates": [
        {
          "allele": "G",
          "end": 1683,
          "referenceAllele": "A",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354624.1:c.659A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341553.1:p.Glu220Gly",
        "hgvsWellDefined": "NP_001341553.1:p.Glu220Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827902438",
      "coordinates": [
        {
          "allele": "G",
          "end": 1581,
          "referenceAllele": "A",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354625.1:c.659A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341554.1:p.Glu220Gly",
        "hgvsWellDefined": "NP_001341554.1:p.Glu220Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827903848",
      "coordinates": [
        {
          "allele": "G",
          "end": 1678,
          "referenceAllele": "A",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354626.1:c.659A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341555.1:p.Glu220Gly",
        "hgvsWellDefined": "NP_001341555.1:p.Glu220Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827905060",
      "coordinates": [
        {
          "allele": "G",
          "end": 1910,
          "referenceAllele": "A",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354627.1:c.659A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341556.1:p.Glu220Gly",
        "hgvsWellDefined": "NP_001341556.1:p.Glu220Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038411",
      "coordinates": [
        {
          "allele": "G",
          "end": 1931,
          "referenceAllele": "A",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354628.1:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341557.1:p.Glu578Gly",
        "hgvsWellDefined": "NP_001341557.1:p.Glu578Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827910320",
      "coordinates": [
        {
          "allele": "G",
          "end": 1832,
          "referenceAllele": "A",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354629.1:c.1634A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341558.1:p.Glu545Gly",
        "hgvsWellDefined": "NP_001341558.1:p.Glu545Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1929,
          "endIntronDirection": "-",
          "endIntronOffset": 996,
          "referenceAllele": "A",
          "start": 1929,
          "startIntronDirection": "-",
          "startIntronOffset": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.1:c.1732-997A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:n.1732-997A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1587,
          "referenceAllele": "A",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265161.2:c.1526A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265218.1:p.Glu509Gly",
        "hgvsWellDefined": "XP_005265218.1:p.Glu509Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1563,
          "referenceAllele": "A",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_017006450.2:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861939.1:p.Glu237Gly",
        "hgvsWellDefined": "XP_016861939.1:p.Glu237Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094125",
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "A",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_000249.4:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000240.1:p.Glu578Gly",
        "hgvsWellDefined": "NP_000240.1:p.Glu578Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231790.8:c.1733A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000249.4:c.1733A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231790.3:p.Glu578Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000240.1:p.Glu578Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826039029",
      "coordinates": [
        {
          "allele": "G",
          "end": 1985,
          "referenceAllele": "A",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.3:c.1439A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:p.Glu480Gly",
        "hgvsWellDefined": "NP_001161089.1:p.Glu480Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713242"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826040871",
      "coordinates": [
        {
          "allele": "G",
          "end": 1985,
          "referenceAllele": "A",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.3:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001161090.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826042713",
      "coordinates": [
        {
          "allele": "G",
          "end": 1898,
          "referenceAllele": "A",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.3:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001161091.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826458498",
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "A",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258271.2:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245200.1:p.Glu578Gly",
        "hgvsWellDefined": "NP_001245200.1:p.Glu578Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714924"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826460086",
      "coordinates": [
        {
          "allele": "G",
          "end": 1672,
          "referenceAllele": "A",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258273.2:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245202.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001245202.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826461929",
      "coordinates": [
        {
          "allele": "G",
          "end": 2135,
          "referenceAllele": "A",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.3:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001245203.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827886093",
      "coordinates": [
        {
          "allele": "G",
          "end": 1666,
          "referenceAllele": "A",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354615.2:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341544.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001341544.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720517"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827887934",
      "coordinates": [
        {
          "allele": "G",
          "end": 1666,
          "referenceAllele": "A",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354616.2:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341545.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001341545.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720518"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827889779",
      "coordinates": [
        {
          "allele": "G",
          "end": 1758,
          "referenceAllele": "A",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354617.2:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341546.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001341546.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827891622",
      "coordinates": [
        {
          "allele": "G",
          "end": 1990,
          "referenceAllele": "A",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354618.2:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341547.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001341547.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827893229",
      "coordinates": [
        {
          "allele": "G",
          "end": 2114,
          "referenceAllele": "A",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354619.2:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341548.1:p.Glu337Gly",
        "hgvsWellDefined": "NP_001341548.1:p.Glu337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720521"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827895394",
      "coordinates": [
        {
          "allele": "G",
          "end": 1753,
          "referenceAllele": "A",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354620.2:c.1439A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341549.1:p.Glu480Gly",
        "hgvsWellDefined": "NP_001341549.1:p.Glu480Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827896862",
      "coordinates": [
        {
          "allele": "G",
          "end": 1783,
          "referenceAllele": "A",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354621.2:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341550.1:p.Glu237Gly",
        "hgvsWellDefined": "NP_001341550.1:p.Glu237Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827898331",
      "coordinates": [
        {
          "allele": "G",
          "end": 1896,
          "referenceAllele": "A",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354622.2:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341551.1:p.Glu237Gly",
        "hgvsWellDefined": "NP_001341551.1:p.Glu237Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827899616",
      "coordinates": [
        {
          "allele": "G",
          "end": 1805,
          "referenceAllele": "A",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354623.2:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341552.1:p.Glu237Gly",
        "hgvsWellDefined": "NP_001341552.1:p.Glu237Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720525"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827901026",
      "coordinates": [
        {
          "allele": "G",
          "end": 1515,
          "referenceAllele": "A",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354624.2:c.659A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341553.1:p.Glu220Gly",
        "hgvsWellDefined": "NP_001341553.1:p.Glu220Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827902438",
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "A",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354625.2:c.659A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341554.1:p.Glu220Gly",
        "hgvsWellDefined": "NP_001341554.1:p.Glu220Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827903848",
      "coordinates": [
        {
          "allele": "G",
          "end": 1510,
          "referenceAllele": "A",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354626.2:c.659A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341555.1:p.Glu220Gly",
        "hgvsWellDefined": "NP_001341555.1:p.Glu220Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827905060",
      "coordinates": [
        {
          "allele": "G",
          "end": 1742,
          "referenceAllele": "A",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354627.2:c.659A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341556.1:p.Glu220Gly",
        "hgvsWellDefined": "NP_001341556.1:p.Glu220Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038411",
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "A",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354628.2:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341557.1:p.Glu578Gly",
        "hgvsWellDefined": "NP_001341557.1:p.Glu578Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720530"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827910320",
      "coordinates": [
        {
          "allele": "G",
          "end": 1664,
          "referenceAllele": "A",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354629.2:c.1634A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341558.1:p.Glu545Gly",
        "hgvsWellDefined": "NP_001341558.1:p.Glu545Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1761,
          "endIntronDirection": "-",
          "endIntronOffset": 996,
          "referenceAllele": "A",
          "start": 1761,
          "startIntronDirection": "-",
          "startIntronOffset": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.2:c.1732-997A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:n.1732-997A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720532"
    }
  ],
  "type": "nucleotide"
}