{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA005413",
  "communityStandardTitle": [
    "NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95211[alleleid]",
        "alleleId": 95211,
        "preferredName": "NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89737",
        "RCV": [
          "RCV000662517",
          "RCV000685340",
          "RCV000776166",
          "RCV002247468",
          "RCV003129770",
          "RCV003997111"
        ],
        "variationId": 89737
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-37070286-G-A",
        "id": "3-37070286-G-A",
        "variant": "3:37070286 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.37070286G>A?assembly=hg19",
        "id": "chr3:g.37070286G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.37028795G>A?assembly=hg38",
        "id": "chr3:g.37028795G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63751083",
        "rs": 63751083
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-37070286-G-A?dataset=gnomad_r2_1",
        "id": "3-37070286-G-A",
        "variant": "3:37070286 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-37028795-G-A?dataset=gnomad_r4",
        "id": "3-37028795-G-A",
        "variant": "3:37028795 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 37028795,
          "referenceAllele": "G",
          "start": 37028794
        }
      ],
      "hgvs": [
        "NC_000003.12:g.37028795G>A",
        "CM000665.2:g.37028795G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 37070286,
          "referenceAllele": "G",
          "start": 37070285
        }
      ],
      "hgvs": [
        "NC_000003.11:g.37070286G>A",
        "CM000665.1:g.37070286G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 37045290,
          "referenceAllele": "G",
          "start": 37045289
        }
      ],
      "hgvs": [
        "NC_000003.10:g.37045290G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40446,
          "referenceAllele": "G",
          "start": 40445
        }
      ],
      "hgvs": [
        "NG_007109.2:g.40446G>A",
        "LRG_216:g.40446G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000485"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1612,
          "referenceAllele": "G",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413740.2:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416476.2:p.Arg474Gln",
        "hgvsWellDefined": "ENSP00000416476.2:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "referenceAllele": "G",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000429117.6:c.1127G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407019.2:p.Arg376Gln",
        "hgvsWellDefined": "ENSP00000407019.2:p.Arg376Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000450420.6:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393006.2:p.Arg474Gln",
        "hgvsWellDefined": "ENSP00000393006.2:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000456676.7:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416687.3:p.Arg474Gln",
        "hgvsWellDefined": "ENSP00000416687.3:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000458009.6:c.*322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411066.2:n.*322G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "referenceAllele": "G",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000492474.6:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518393.1:p.Arg233Gln",
        "hgvsWellDefined": "ENSP00000518393.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000616768.6:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480669.3:p.Arg474Gln",
        "hgvsWellDefined": "ENSP00000480669.3:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673673.2:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500979.2:p.Arg474Gln",
        "hgvsWellDefined": "ENSP00000500979.2:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000231790.8:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231790.3:p.Arg474Gln",
        "hgvsWellDefined": "ENSP00000231790.3:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740875",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231790.8:c.1421G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000249.4:c.1421G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231790.3:p.Arg474Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000240.1:p.Arg474Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413212.2:c.*339G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400844.2:n.*339G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1424,
          "referenceAllele": "G",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000432299.6:c.*1253G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416783.1:n.*1253G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "referenceAllele": "G",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000441265.6:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398392.2:p.Arg233Gln",
        "hgvsWellDefined": "ENSP00000398392.2:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1243,
          "referenceAllele": "G",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000447829.6:c.*532G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399329.2:n.*532G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1300,
          "referenceAllele": "G",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000539477.6:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443665.1:p.Arg233Gln",
        "hgvsWellDefined": "ENSP00000443665.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 458,
          "referenceAllele": "G",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000616768.5:c.458G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480669.2:p.Arg153Gln",
        "hgvsWellDefined": "ENSP00000480669.2:p.Arg153Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1374,
          "referenceAllele": "G",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673673.1:c.1374G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673715.1:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501301.1:p.Arg474Gln",
        "hgvsWellDefined": "ENSP00000501301.1:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673889.1:n.803G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673897.1:c.*1213G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501109.1:n.*1213G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 748,
          "referenceAllele": "G",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673899.1:c.689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501030.1:p.Arg230Gln",
        "hgvsWellDefined": "ENSP00000501030.1:p.Arg230Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1687,
          "referenceAllele": "G",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673947.1:c.*1561G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501304.1:n.*1561G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673972.1:c.*1299G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501281.1:n.*1299G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1312,
          "referenceAllele": "G",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673990.1:n.1312G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "referenceAllele": "G",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674019.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501081.1:p.Arg233Gln",
        "hgvsWellDefined": "ENSP00000501081.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674107.1:n.1269G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1474,
          "referenceAllele": "G",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674111.1:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501162.1:p.Arg474Gln",
        "hgvsWellDefined": "ENSP00000501162.1:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 132,
          "referenceAllele": "G",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674125.1:n.132G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1637,
          "referenceAllele": "G",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000231790.6:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231790.2:p.Arg474Gln",
        "hgvsWellDefined": "ENSP00000231790.2:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "referenceAllele": "G",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413212.1:c.496G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282960"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44,
          "referenceAllele": "G",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413740.1:c.44G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416476.1:p.Arg15Gln",
        "hgvsWellDefined": "ENSP00000416476.1:p.Arg15Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000435176.5:c.1127G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402564.1:p.Arg376Gln",
        "hgvsWellDefined": "ENSP00000402564.1:p.Arg376Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44,
          "referenceAllele": "G",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000450420.5:c.44G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393006.1:p.Arg15Gln",
        "hgvsWellDefined": "ENSP00000393006.1:p.Arg15Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1393,
          "referenceAllele": "G",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000455445.6:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398272.2:p.Arg233Gln",
        "hgvsWellDefined": "ENSP00000398272.2:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1396,
          "referenceAllele": "G",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000456676.6:c.1396G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000458009.5:c.608G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1565,
          "referenceAllele": "G",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000458205.6:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402667.2:p.Arg233Gln",
        "hgvsWellDefined": "ENSP00000402667.2:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1528,
          "referenceAllele": "G",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000536378.5:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444286.2:p.Arg233Gln",
        "hgvsWellDefined": "ENSP00000444286.2:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "G",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000539477.5:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443665.1:p.Arg233Gln",
        "hgvsWellDefined": "ENSP00000443665.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000616768.4:c.189G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA330722",
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "referenceAllele": "G",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_000249.3:c.1421G>A",
        "LRG_216t1:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000240.1:p.Arg474Gln",
        "hgvsWellDefined": "NP_000240.1:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826038674",
      "coordinates": [
        {
          "allele": "A",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.1:c.1127G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:p.Arg376Gln",
        "hgvsWellDefined": "NP_001161089.1:p.Arg376Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826040517",
      "coordinates": [
        {
          "allele": "A",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001161090.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014973"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826042359",
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "G",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001161091.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826458146",
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "referenceAllele": "G",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258271.1:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245200.1:p.Arg474Gln",
        "hgvsWellDefined": "NP_001245200.1:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826459734",
      "coordinates": [
        {
          "allele": "A",
          "end": 1528,
          "referenceAllele": "G",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258273.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245202.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001245202.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826461574",
      "coordinates": [
        {
          "allele": "A",
          "end": 1564,
          "referenceAllele": "G",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001245203.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265161.1:c.1214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265218.1:p.Arg405Gln",
        "hgvsWellDefined": "XP_005265218.1:p.Arg405Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265163.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265220.1:p.Arg233Gln",
        "hgvsWellDefined": "XP_005265220.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265164.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265221.1:p.Arg233Gln",
        "hgvsWellDefined": "XP_005265221.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1333,
          "referenceAllele": "G",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265166.1:c.398G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265223.1:p.Arg133Gln",
        "hgvsWellDefined": "XP_005265223.1:p.Arg133Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "referenceAllele": "G",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_011533727.1:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532029.1:p.Arg116Gln",
        "hgvsWellDefined": "XP_011532029.1:p.Arg116Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826038674",
      "coordinates": [
        {
          "allele": "A",
          "end": 1841,
          "referenceAllele": "G",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.2:c.1127G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:p.Arg376Gln",
        "hgvsWellDefined": "NP_001161089.1:p.Arg376Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826040517",
      "coordinates": [
        {
          "allele": "A",
          "end": 1841,
          "referenceAllele": "G",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.2:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001161090.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826042359",
      "coordinates": [
        {
          "allele": "A",
          "end": 1754,
          "referenceAllele": "G",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.2:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001161091.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826461574",
      "coordinates": [
        {
          "allele": "A",
          "end": 1991,
          "referenceAllele": "G",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.2:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001245203.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511992"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827885740",
      "coordinates": [
        {
          "allele": "A",
          "end": 1522,
          "referenceAllele": "G",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354615.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341544.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001341544.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827887581",
      "coordinates": [
        {
          "allele": "A",
          "end": 1522,
          "referenceAllele": "G",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354616.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341545.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001341545.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522557"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827889424",
      "coordinates": [
        {
          "allele": "A",
          "end": 1614,
          "referenceAllele": "G",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354617.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341546.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001341546.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827891266",
      "coordinates": [
        {
          "allele": "A",
          "end": 1846,
          "referenceAllele": "G",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354618.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341547.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001341547.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827892876",
      "coordinates": [
        {
          "allele": "A",
          "end": 1970,
          "referenceAllele": "G",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354619.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341548.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001341548.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827895041",
      "coordinates": [
        {
          "allele": "A",
          "end": 1609,
          "referenceAllele": "G",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354620.1:c.1127G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341549.1:p.Arg376Gln",
        "hgvsWellDefined": "NP_001341549.1:p.Arg376Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827896511",
      "coordinates": [
        {
          "allele": "A",
          "end": 1639,
          "referenceAllele": "G",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354621.1:c.398G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341550.1:p.Arg133Gln",
        "hgvsWellDefined": "NP_001341550.1:p.Arg133Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827897977",
      "coordinates": [
        {
          "allele": "A",
          "end": 1752,
          "referenceAllele": "G",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354622.1:c.398G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341551.1:p.Arg133Gln",
        "hgvsWellDefined": "NP_001341551.1:p.Arg133Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827899262",
      "coordinates": [
        {
          "allele": "A",
          "end": 1661,
          "referenceAllele": "G",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354623.1:c.398G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341552.1:p.Arg133Gln",
        "hgvsWellDefined": "NP_001341552.1:p.Arg133Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827900674",
      "coordinates": [
        {
          "allele": "A",
          "end": 1371,
          "referenceAllele": "G",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354624.1:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341553.1:p.Arg116Gln",
        "hgvsWellDefined": "NP_001341553.1:p.Arg116Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827902084",
      "coordinates": [
        {
          "allele": "A",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354625.1:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341554.1:p.Arg116Gln",
        "hgvsWellDefined": "NP_001341554.1:p.Arg116Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827903496",
      "coordinates": [
        {
          "allele": "A",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354626.1:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341555.1:p.Arg116Gln",
        "hgvsWellDefined": "NP_001341555.1:p.Arg116Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827904783",
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354627.1:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341556.1:p.Arg116Gln",
        "hgvsWellDefined": "NP_001341556.1:p.Arg116Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827907661",
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "referenceAllele": "G",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354628.1:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341557.1:p.Arg474Gln",
        "hgvsWellDefined": "NP_001341557.1:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827909964",
      "coordinates": [
        {
          "allele": "A",
          "end": 1520,
          "referenceAllele": "G",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354629.1:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341558.1:p.Arg441Gln",
        "hgvsWellDefined": "NP_001341558.1:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038879",
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "referenceAllele": "G",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.1:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:p.Arg474Gln",
        "hgvsWellDefined": "NP_001341559.1:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1275,
          "referenceAllele": "G",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265161.2:c.1214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265218.1:p.Arg405Gln",
        "hgvsWellDefined": "XP_005265218.1:p.Arg405Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_017006450.2:c.398G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861939.1:p.Arg133Gln",
        "hgvsWellDefined": "XP_016861939.1:p.Arg133Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA330722",
      "coordinates": [
        {
          "allele": "A",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_000249.4:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000240.1:p.Arg474Gln",
        "hgvsWellDefined": "NP_000240.1:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231790.8:c.1421G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000249.4:c.1421G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231790.3:p.Arg474Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000240.1:p.Arg474Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826038674",
      "coordinates": [
        {
          "allele": "A",
          "end": 1673,
          "referenceAllele": "G",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.3:c.1127G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:p.Arg376Gln",
        "hgvsWellDefined": "NP_001161089.1:p.Arg376Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713242"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826040517",
      "coordinates": [
        {
          "allele": "A",
          "end": 1673,
          "referenceAllele": "G",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.3:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001161090.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826042359",
      "coordinates": [
        {
          "allele": "A",
          "end": 1586,
          "referenceAllele": "G",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.3:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001161091.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826458146",
      "coordinates": [
        {
          "allele": "A",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258271.2:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245200.1:p.Arg474Gln",
        "hgvsWellDefined": "NP_001245200.1:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714924"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826459734",
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258273.2:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245202.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001245202.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826461574",
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.3:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001245203.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827885740",
      "coordinates": [
        {
          "allele": "A",
          "end": 1354,
          "referenceAllele": "G",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354615.2:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341544.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001341544.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720517"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827887581",
      "coordinates": [
        {
          "allele": "A",
          "end": 1354,
          "referenceAllele": "G",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354616.2:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341545.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001341545.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720518"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827889424",
      "coordinates": [
        {
          "allele": "A",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354617.2:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341546.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001341546.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827891266",
      "coordinates": [
        {
          "allele": "A",
          "end": 1678,
          "referenceAllele": "G",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354618.2:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341547.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001341547.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827892876",
      "coordinates": [
        {
          "allele": "A",
          "end": 1802,
          "referenceAllele": "G",
          "start": 1801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354619.2:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341548.1:p.Arg233Gln",
        "hgvsWellDefined": "NP_001341548.1:p.Arg233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720521"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827895041",
      "coordinates": [
        {
          "allele": "A",
          "end": 1441,
          "referenceAllele": "G",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354620.2:c.1127G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341549.1:p.Arg376Gln",
        "hgvsWellDefined": "NP_001341549.1:p.Arg376Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827896511",
      "coordinates": [
        {
          "allele": "A",
          "end": 1471,
          "referenceAllele": "G",
          "start": 1470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354621.2:c.398G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341550.1:p.Arg133Gln",
        "hgvsWellDefined": "NP_001341550.1:p.Arg133Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827897977",
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
          "referenceAllele": "G",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354622.2:c.398G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341551.1:p.Arg133Gln",
        "hgvsWellDefined": "NP_001341551.1:p.Arg133Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827899262",
      "coordinates": [
        {
          "allele": "A",
          "end": 1493,
          "referenceAllele": "G",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354623.2:c.398G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341552.1:p.Arg133Gln",
        "hgvsWellDefined": "NP_001341552.1:p.Arg133Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720525"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827900674",
      "coordinates": [
        {
          "allele": "A",
          "end": 1203,
          "referenceAllele": "G",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354624.2:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341553.1:p.Arg116Gln",
        "hgvsWellDefined": "NP_001341553.1:p.Arg116Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827902084",
      "coordinates": [
        {
          "allele": "A",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354625.2:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341554.1:p.Arg116Gln",
        "hgvsWellDefined": "NP_001341554.1:p.Arg116Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827903496",
      "coordinates": [
        {
          "allele": "A",
          "end": 1198,
          "referenceAllele": "G",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354626.2:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341555.1:p.Arg116Gln",
        "hgvsWellDefined": "NP_001341555.1:p.Arg116Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827904783",
      "coordinates": [
        {
          "allele": "A",
          "end": 1430,
          "referenceAllele": "G",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354627.2:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341556.1:p.Arg116Gln",
        "hgvsWellDefined": "NP_001341556.1:p.Arg116Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827907661",
      "coordinates": [
        {
          "allele": "A",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354628.2:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341557.1:p.Arg474Gln",
        "hgvsWellDefined": "NP_001341557.1:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720530"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827909964",
      "coordinates": [
        {
          "allele": "A",
          "end": 1352,
          "referenceAllele": "G",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354629.2:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341558.1:p.Arg441Gln",
        "hgvsWellDefined": "NP_001341558.1:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038879",
      "coordinates": [
        {
          "allele": "A",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.2:c.1421G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:p.Arg474Gln",
        "hgvsWellDefined": "NP_001341559.1:p.Arg474Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720532"
    }
  ],
  "type": "nucleotide"
}