{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA004107",
  "communityStandardTitle": [
    "NM_000249.4(MLH1):c.1038G>T (p.Gln346His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95092[alleleid]",
        "alleleId": 95092,
        "preferredName": "NM_000249.4(MLH1):c.1038G>T (p.Gln346His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89618",
        "RCV": [
          "RCV000075087",
          "RCV002390212"
        ],
        "variationId": 89618
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.37061954G>T?assembly=hg19",
        "id": "chr3:g.37061954G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.37020463G>T?assembly=hg38",
        "id": "chr3:g.37020463G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63751715",
        "rs": 63751715
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 37020463,
          "referenceAllele": "G",
          "start": 37020462
        }
      ],
      "hgvs": [
        "NC_000003.12:g.37020463G>T",
        "CM000665.2:g.37020463G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 37061954,
          "referenceAllele": "G",
          "start": 37061953
        }
      ],
      "hgvs": [
        "NC_000003.11:g.37061954G>T",
        "CM000665.1:g.37061954G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 37036958,
          "referenceAllele": "G",
          "start": 37036957
        }
      ],
      "hgvs": [
        "NC_000003.10:g.37036958G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32114,
          "referenceAllele": "G",
          "start": 32113
        }
      ],
      "hgvs": [
        "NG_007109.2:g.32114G>T",
        "LRG_216:g.32114G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000485"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1229,
          "referenceAllele": "G",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413740.2:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416476.2:p.Gln346His",
        "hgvsWellDefined": "ENSP00000416476.2:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000429117.6:c.744G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407019.2:p.Gln248His",
        "hgvsWellDefined": "ENSP00000407019.2:p.Gln248His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000450420.6:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393006.2:p.Gln346His",
        "hgvsWellDefined": "ENSP00000393006.2:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000456676.7:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416687.3:p.Gln346His",
        "hgvsWellDefined": "ENSP00000416687.3:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 914,
          "endIntronDirection": "+",
          "endIntronOffset": 2864,
          "referenceAllele": "G",
          "start": 914,
          "startIntronDirection": "+",
          "startIntronOffset": 2863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000458009.6:c.884+2864G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411066.2:n.884+2864G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914099"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000492474.6:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518393.1:p.Gln105His",
        "hgvsWellDefined": "ENSP00000518393.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "referenceAllele": "G",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000616768.6:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480669.3:p.Gln346His",
        "hgvsWellDefined": "ENSP00000480669.3:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673673.2:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500979.2:p.Gln346His",
        "hgvsWellDefined": "ENSP00000500979.2:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000231790.8:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231790.3:p.Gln346His",
        "hgvsWellDefined": "ENSP00000231790.3:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740875",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231790.8:c.1038G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000249.4:c.1038G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231790.3:p.Gln346His"
          },
          "RefSeq": {
            "hgvs": "NP_000240.1:p.Gln346His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "endIntronDirection": "-",
          "endIntronOffset": 5173,
          "referenceAllele": "G",
          "start": 780,
          "startIntronDirection": "-",
          "startIntronOffset": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413212.2:c.68-5174G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400844.2:n.68-5174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1041,
          "endIntronDirection": "-",
          "endIntronOffset": 5173,
          "referenceAllele": "G",
          "start": 1041,
          "startIntronDirection": "-",
          "startIntronOffset": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000432299.6:c.*871-5174G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416783.1:n.*871-5174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1134,
          "referenceAllele": "G",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000441265.6:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398392.2:p.Gln105His",
        "hgvsWellDefined": "ENSP00000398392.2:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000442249.6:n.846G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "G",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000447829.6:c.*149G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399329.2:n.*149G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000539477.6:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443665.1:p.Gln105His",
        "hgvsWellDefined": "ENSP00000443665.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 75,
          "referenceAllele": "G",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000616768.5:c.75G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480669.2:p.Gln25His",
        "hgvsWellDefined": "ENSP00000480669.2:p.Gln25His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762077"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673673.1:c.991G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1069,
          "referenceAllele": "G",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673713.1:n.1069G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "G",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673715.1:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501301.1:p.Gln346His",
        "hgvsWellDefined": "ENSP00000501301.1:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673889.1:n.420G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673897.1:c.*830G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501109.1:n.*830G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 736,
          "endIntronDirection": "-",
          "endIntronOffset": 8320,
          "referenceAllele": "G",
          "start": 736,
          "startIntronDirection": "-",
          "startIntronOffset": 8321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673899.1:c.678-8321G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501030.1:n.678-8321G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "G",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673947.1:c.*1178G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501304.1:n.*1178G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673972.1:c.*916G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501281.1:n.*916G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "G",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673990.1:n.929G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674019.1:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501081.1:p.Gln105His",
        "hgvsWellDefined": "ENSP00000501081.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674107.1:n.886G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674111.1:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501162.1:p.Gln346His",
        "hgvsWellDefined": "ENSP00000501162.1:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000231790.6:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231790.2:p.Gln346His",
        "hgvsWellDefined": "ENSP00000231790.2:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113,
          "endIntronDirection": "-",
          "endIntronOffset": 5173,
          "referenceAllele": "G",
          "start": 113,
          "startIntronDirection": "-",
          "startIntronOffset": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413212.1:c.114-5174G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "G",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000435176.5:c.744G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402564.1:p.Gln248His",
        "hgvsWellDefined": "ENSP00000402564.1:p.Gln248His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000441265.5:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398392.1:p.Gln105His",
        "hgvsWellDefined": "ENSP00000398392.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "G",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000447829.5:c.325G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1010,
          "referenceAllele": "G",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000455445.6:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398272.2:p.Gln105His",
        "hgvsWellDefined": "ENSP00000398272.2:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1013,
          "referenceAllele": "G",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000456676.6:c.1013G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "endIntronDirection": "+",
          "endIntronOffset": 2864,
          "referenceAllele": "G",
          "start": 225,
          "startIntronDirection": "+",
          "startIntronOffset": 2863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000458009.5:c.225+2864G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1182,
          "referenceAllele": "G",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000458205.6:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402667.2:p.Gln105His",
        "hgvsWellDefined": "ENSP00000402667.2:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000536378.5:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444286.2:p.Gln105His",
        "hgvsWellDefined": "ENSP00000444286.2:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 944,
          "referenceAllele": "G",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000539477.5:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443665.1:p.Gln105His",
        "hgvsWellDefined": "ENSP00000443665.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA330646",
      "coordinates": [
        {
          "allele": "T",
          "end": 1236,
          "referenceAllele": "G",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_000249.3:c.1038G>T",
        "LRG_216t1:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000240.1:p.Gln346His",
        "hgvsWellDefined": "NP_000240.1:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826038253",
      "coordinates": [
        {
          "allele": "T",
          "end": 1031,
          "referenceAllele": "G",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.1:c.744G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:p.Gln248His",
        "hgvsWellDefined": "NP_001161089.1:p.Gln248His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826040095",
      "coordinates": [
        {
          "allele": "T",
          "end": 1031,
          "referenceAllele": "G",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.1:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:p.Gln105His",
        "hgvsWellDefined": "NP_001161090.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014973"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826041937",
      "coordinates": [
        {
          "allele": "T",
          "end": 944,
          "referenceAllele": "G",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.1:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:p.Gln105His",
        "hgvsWellDefined": "NP_001161091.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826457722",
      "coordinates": [
        {
          "allele": "T",
          "end": 1236,
          "referenceAllele": "G",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258271.1:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245200.1:p.Gln346His",
        "hgvsWellDefined": "NP_001245200.1:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826459308",
      "coordinates": [
        {
          "allele": "T",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258273.1:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245202.1:p.Gln105His",
        "hgvsWellDefined": "NP_001245202.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826461152",
      "coordinates": [
        {
          "allele": "T",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.1:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:p.Gln105His",
        "hgvsWellDefined": "NP_001245203.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 919,
          "referenceAllele": "G",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265161.1:c.831G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265218.1:p.Gln277His",
        "hgvsWellDefined": "XP_005265218.1:p.Gln277His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265163.1:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265220.1:p.Gln105His",
        "hgvsWellDefined": "XP_005265220.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265164.1:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265221.1:p.Gln105His",
        "hgvsWellDefined": "XP_005265221.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265166.1:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265223.1:p.Gln5His",
        "hgvsWellDefined": "XP_005265223.1:p.Gln5His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 796,
          "endIntronDirection": "-",
          "endIntronOffset": 5173,
          "referenceAllele": "G",
          "start": 796,
          "startIntronDirection": "-",
          "startIntronOffset": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_011533727.1:c.-36-5174G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532029.1:n.-36-5174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826038253",
      "coordinates": [
        {
          "allele": "T",
          "end": 1458,
          "referenceAllele": "G",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.2:c.744G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:p.Gln248His",
        "hgvsWellDefined": "NP_001161089.1:p.Gln248His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826040095",
      "coordinates": [
        {
          "allele": "T",
          "end": 1458,
          "referenceAllele": "G",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.2:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:p.Gln105His",
        "hgvsWellDefined": "NP_001161090.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826041937",
      "coordinates": [
        {
          "allele": "T",
          "end": 1371,
          "referenceAllele": "G",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.2:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:p.Gln105His",
        "hgvsWellDefined": "NP_001161091.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826461152",
      "coordinates": [
        {
          "allele": "T",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.2:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:p.Gln105His",
        "hgvsWellDefined": "NP_001245203.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511992"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827885314",
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "referenceAllele": "G",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354615.1:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341544.1:p.Gln105His",
        "hgvsWellDefined": "NP_001341544.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827887159",
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "referenceAllele": "G",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354616.1:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341545.1:p.Gln105His",
        "hgvsWellDefined": "NP_001341545.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522557"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827889002",
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "G",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354617.1:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341546.1:p.Gln105His",
        "hgvsWellDefined": "NP_001341546.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827890844",
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "G",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354618.1:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341547.1:p.Gln105His",
        "hgvsWellDefined": "NP_001341547.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827892451",
      "coordinates": [
        {
          "allele": "T",
          "end": 1587,
          "referenceAllele": "G",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354619.1:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341548.1:p.Gln105His",
        "hgvsWellDefined": "NP_001341548.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827894616",
      "coordinates": [
        {
          "allele": "T",
          "end": 1226,
          "referenceAllele": "G",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354620.1:c.744G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341549.1:p.Gln248His",
        "hgvsWellDefined": "NP_001341549.1:p.Gln248His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827896086",
      "coordinates": [
        {
          "allele": "T",
          "end": 1256,
          "referenceAllele": "G",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354621.1:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341550.1:p.Gln5His",
        "hgvsWellDefined": "NP_001341550.1:p.Gln5His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827897555",
      "coordinates": [
        {
          "allele": "T",
          "end": 1369,
          "referenceAllele": "G",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354622.1:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341551.1:p.Gln5His",
        "hgvsWellDefined": "NP_001341551.1:p.Gln5His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038278",
      "coordinates": [
        {
          "allele": "T",
          "end": 1278,
          "referenceAllele": "G",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354623.1:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341552.1:p.Gln5His",
        "hgvsWellDefined": "NP_001341552.1:p.Gln5His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 988,
          "endIntronDirection": "-",
          "endIntronOffset": 5173,
          "referenceAllele": "G",
          "start": 988,
          "startIntronDirection": "-",
          "startIntronOffset": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354624.1:c.-36-5174G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341553.1:n.-36-5174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 5173,
          "referenceAllele": "G",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354625.1:c.-36-5174G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341554.1:n.-36-5174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 983,
          "endIntronDirection": "-",
          "endIntronOffset": 5173,
          "referenceAllele": "G",
          "start": 983,
          "startIntronDirection": "-",
          "startIntronOffset": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354626.1:c.-36-5174G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341555.1:n.-36-5174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1215,
          "endIntronDirection": "-",
          "endIntronOffset": 5173,
          "referenceAllele": "G",
          "start": 1215,
          "startIntronDirection": "-",
          "startIntronOffset": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354627.1:c.-36-5174G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341556.1:n.-36-5174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827907237",
      "coordinates": [
        {
          "allele": "T",
          "end": 1236,
          "referenceAllele": "G",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354628.1:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341557.1:p.Gln346His",
        "hgvsWellDefined": "NP_001341557.1:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827909543",
      "coordinates": [
        {
          "allele": "T",
          "end": 1137,
          "referenceAllele": "G",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354629.1:c.939G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341558.1:p.Gln313His",
        "hgvsWellDefined": "NP_001341558.1:p.Gln313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827911808",
      "coordinates": [
        {
          "allele": "T",
          "end": 1236,
          "referenceAllele": "G",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.1:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:p.Gln346His",
        "hgvsWellDefined": "NP_001341559.1:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "G",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265161.2:c.831G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265218.1:p.Gln277His",
        "hgvsWellDefined": "XP_005265218.1:p.Gln277His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 868,
          "referenceAllele": "G",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_017006450.2:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861939.1:p.Gln5His",
        "hgvsWellDefined": "XP_016861939.1:p.Gln5His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA330646",
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_000249.4:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000240.1:p.Gln346His",
        "hgvsWellDefined": "NP_000240.1:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231790.8:c.1038G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000249.4:c.1038G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231790.3:p.Gln346His"
          },
          "RefSeq": {
            "hgvs": "NP_000240.1:p.Gln346His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826038253",
      "coordinates": [
        {
          "allele": "T",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.3:c.744G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:p.Gln248His",
        "hgvsWellDefined": "NP_001161089.1:p.Gln248His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713242"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826040095",
      "coordinates": [
        {
          "allele": "T",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.3:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:p.Gln105His",
        "hgvsWellDefined": "NP_001161090.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826041937",
      "coordinates": [
        {
          "allele": "T",
          "end": 1203,
          "referenceAllele": "G",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.3:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:p.Gln105His",
        "hgvsWellDefined": "NP_001161091.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826457722",
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258271.2:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245200.1:p.Gln346His",
        "hgvsWellDefined": "NP_001245200.1:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714924"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826459308",
      "coordinates": [
        {
          "allele": "T",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258273.2:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245202.1:p.Gln105His",
        "hgvsWellDefined": "NP_001245202.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826461152",
      "coordinates": [
        {
          "allele": "T",
          "end": 1440,
          "referenceAllele": "G",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.3:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:p.Gln105His",
        "hgvsWellDefined": "NP_001245203.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827885314",
      "coordinates": [
        {
          "allele": "T",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354615.2:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341544.1:p.Gln105His",
        "hgvsWellDefined": "NP_001341544.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720517"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827887159",
      "coordinates": [
        {
          "allele": "T",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354616.2:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341545.1:p.Gln105His",
        "hgvsWellDefined": "NP_001341545.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720518"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827889002",
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "G",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354617.2:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341546.1:p.Gln105His",
        "hgvsWellDefined": "NP_001341546.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827890844",
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354618.2:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341547.1:p.Gln105His",
        "hgvsWellDefined": "NP_001341547.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827892451",
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354619.2:c.315G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341548.1:p.Gln105His",
        "hgvsWellDefined": "NP_001341548.1:p.Gln105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720521"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827894616",
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354620.2:c.744G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341549.1:p.Gln248His",
        "hgvsWellDefined": "NP_001341549.1:p.Gln248His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827896086",
      "coordinates": [
        {
          "allele": "T",
          "end": 1088,
          "referenceAllele": "G",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354621.2:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341550.1:p.Gln5His",
        "hgvsWellDefined": "NP_001341550.1:p.Gln5His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827897555",
      "coordinates": [
        {
          "allele": "T",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354622.2:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341551.1:p.Gln5His",
        "hgvsWellDefined": "NP_001341551.1:p.Gln5His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038278",
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354623.2:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341552.1:p.Gln5His",
        "hgvsWellDefined": "NP_001341552.1:p.Gln5His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 820,
          "endIntronDirection": "-",
          "endIntronOffset": 5173,
          "referenceAllele": "G",
          "start": 820,
          "startIntronDirection": "-",
          "startIntronOffset": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354624.2:c.-36-5174G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341553.1:n.-36-5174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "endIntronDirection": "-",
          "endIntronOffset": 5173,
          "referenceAllele": "G",
          "start": 718,
          "startIntronDirection": "-",
          "startIntronOffset": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354625.2:c.-36-5174G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341554.1:n.-36-5174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "endIntronDirection": "-",
          "endIntronOffset": 5173,
          "referenceAllele": "G",
          "start": 815,
          "startIntronDirection": "-",
          "startIntronOffset": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354626.2:c.-36-5174G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341555.1:n.-36-5174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1047,
          "endIntronDirection": "-",
          "endIntronOffset": 5173,
          "referenceAllele": "G",
          "start": 1047,
          "startIntronDirection": "-",
          "startIntronOffset": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354627.2:c.-36-5174G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341556.1:n.-36-5174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827907237",
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354628.2:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341557.1:p.Gln346His",
        "hgvsWellDefined": "NP_001341557.1:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720530"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827909543",
      "coordinates": [
        {
          "allele": "T",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354629.2:c.939G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341558.1:p.Gln313His",
        "hgvsWellDefined": "NP_001341558.1:p.Gln313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827911808",
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.2:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:p.Gln346His",
        "hgvsWellDefined": "NP_001341559.1:p.Gln346His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720532"
    }
  ],
  "type": "nucleotide"
}