{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA009402",
  "communityStandardTitle": [
    "NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5399179",
        "active": true,
        "id": "COSM5399179"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95590[alleleid]",
        "alleleId": 95590,
        "preferredName": "NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90116",
        "RCV": [
          "RCV000075602",
          "RCV000166056",
          "RCV000490565",
          "RCV000506252",
          "RCV000542720",
          "RCV001353582",
          "RCV002467439"
        ],
        "variationId": 90116
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-37042482-A-G",
        "id": "3-37042482-A-G",
        "variant": "3:37042482 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.37042482A>G?assembly=hg19",
        "id": "chr3:g.37042482A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.37000991A>G?assembly=hg38",
        "id": "chr3:g.37000991A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587778998",
        "rs": 587778998
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-37042482-A-G?dataset=gnomad_r2_1",
        "id": "3-37042482-A-G",
        "variant": "3:37042482 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-37000991-A-G?dataset=gnomad_r4",
        "id": "3-37000991-A-G",
        "variant": "3:37000991 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 37000991,
          "referenceAllele": "A",
          "start": 37000990
        }
      ],
      "hgvs": [
        "NC_000003.12:g.37000991A>G",
        "CM000665.2:g.37000991A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 37042482,
          "referenceAllele": "A",
          "start": 37042481
        }
      ],
      "hgvs": [
        "NC_000003.11:g.37042482A>G",
        "CM000665.1:g.37042482A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 37017486,
          "referenceAllele": "A",
          "start": 37017485
        }
      ],
      "hgvs": [
        "NC_000003.10:g.37017486A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12642,
          "referenceAllele": "A",
          "start": 12641
        }
      ],
      "hgvs": [
        "NG_007109.2:g.12642A>G",
        "LRG_216:g.12642A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000485"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "A",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413740.2:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416476.2:p.Thr82Ala",
        "hgvsWellDefined": "ENSP00000416476.2:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "A",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000429117.6:c.-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407019.2:n.-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "A",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000450420.6:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393006.2:p.Thr82Ala",
        "hgvsWellDefined": "ENSP00000393006.2:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "A",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000456676.7:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416687.3:p.Thr82Ala",
        "hgvsWellDefined": "ENSP00000416687.3:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "A",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000458009.6:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411066.2:p.Thr82Ala",
        "hgvsWellDefined": "ENSP00000411066.2:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 302,
          "referenceAllele": "A",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000492474.6:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518393.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 320,
          "referenceAllele": "A",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000616768.6:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480669.3:p.Thr82Ala",
        "hgvsWellDefined": "ENSP00000480669.3:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "referenceAllele": "A",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673673.2:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500979.2:p.Thr82Ala",
        "hgvsWellDefined": "ENSP00000500979.2:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "A",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000231790.8:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231790.3:p.Thr82Ala",
        "hgvsWellDefined": "ENSP00000231790.3:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740875",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231790.8:c.244A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000249.4:c.244A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231790.3:p.Thr82Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000240.1:p.Thr82Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "referenceAllele": "A",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413212.2:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400844.2:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000432299.6:c.*324A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416783.1:n.*324A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 340,
          "referenceAllele": "A",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000441265.6:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398392.2:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 259,
          "referenceAllele": "A",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000442249.6:n.259A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "referenceAllele": "A",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000447829.6:c.-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399329.2:n.-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 215,
          "referenceAllele": "A",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000539477.6:c.-388A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443665.1:n.-388A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "referenceAllele": "A",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673673.1:c.197A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "referenceAllele": "A",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673713.1:n.275A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "referenceAllele": "A",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673715.1:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501301.1:p.Thr82Ala",
        "hgvsWellDefined": "ENSP00000501301.1:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "referenceAllele": "A",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673897.1:c.*36A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501109.1:n.*36A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 303,
          "referenceAllele": "A",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673899.1:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501030.1:p.Thr82Ala",
        "hgvsWellDefined": "ENSP00000501030.1:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 510,
          "referenceAllele": "A",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673947.1:c.*384A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501304.1:n.*384A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 272,
          "referenceAllele": "A",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673972.1:c.*122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501281.1:n.*122A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 229,
          "referenceAllele": "A",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673990.1:n.229A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 379,
          "referenceAllele": "A",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674019.1:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501081.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 186,
          "referenceAllele": "A",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674107.1:n.186A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 297,
          "referenceAllele": "A",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674111.1:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501162.1:p.Thr82Ala",
        "hgvsWellDefined": "ENSP00000501162.1:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "referenceAllele": "A",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000231790.6:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231790.2:p.Thr82Ala",
        "hgvsWellDefined": "ENSP00000231790.2:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "A",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000429117.5:c.-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407019.1:n.-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000432299.5:c.*324A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416783.1:n.*324A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 215,
          "referenceAllele": "A",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000435176.5:c.-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402564.1:n.-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 215,
          "referenceAllele": "A",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000441265.5:c.-388A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398392.1:n.-388A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 168,
          "referenceAllele": "A",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000442249.5:c.*36A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387511.1:n.*36A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 253,
          "referenceAllele": "A",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000454028.5:c.*122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392649.1:n.*122A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "referenceAllele": "A",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000455445.6:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398272.2:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "referenceAllele": "A",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000456676.6:c.219A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247416"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "endIntronDirection": "-",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 234,
          "startIntronDirection": "-",
          "startIntronOffset": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000457004.5:c.*86-3410A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407773.1:n.*86-3410A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 388,
          "referenceAllele": "A",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000458205.6:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402667.2:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 171,
          "referenceAllele": "A",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000466900.5:n.171A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 366,
          "referenceAllele": "A",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000476172.5:n.366A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 248,
          "referenceAllele": "A",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000485889.1:n.248A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "A",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000492474.5:n.267A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329848"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 351,
          "referenceAllele": "A",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000536378.5:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444286.2:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "A",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000539477.5:c.-388A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443665.1:n.-388A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA194882",
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_000249.3:c.244A>G",
        "LRG_216t1:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000240.1:p.Thr82Ala",
        "hgvsWellDefined": "NP_000240.1:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "A",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.1:c.-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:n.-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 237,
          "referenceAllele": "A",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.1:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "A",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.1:c.-388A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:n.-388A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826456753",
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258271.1:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245200.1:p.Thr82Ala",
        "hgvsWellDefined": "NP_001245200.1:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 351,
          "referenceAllele": "A",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258273.1:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245202.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019759"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.1:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 332,
          "referenceAllele": "A",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265161.1:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265218.1:p.Thr82Ala",
        "hgvsWellDefined": "XP_005265218.1:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "A",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265163.1:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265220.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 295,
          "referenceAllele": "A",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265164.1:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265221.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 250,
          "referenceAllele": "A",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265166.1:c.-686A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265223.1:n.-686A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 250,
          "referenceAllele": "A",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_011533727.1:c.-583A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532029.1:n.-583A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "A",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.2:c.-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:n.-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "referenceAllele": "A",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.2:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "A",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.2:c.-388A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:n.-388A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "A",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.2:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511992"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354615.1:c.-383A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341544.1:n.-383A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 437,
          "referenceAllele": "A",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354616.1:c.-388A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341545.1:n.-388A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522557"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 437,
          "referenceAllele": "A",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354617.1:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341546.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "A",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354618.1:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341547.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 793,
          "referenceAllele": "A",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354619.1:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341548.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 437,
          "referenceAllele": "A",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354620.1:c.-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341549.1:n.-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "A",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354621.1:c.-573A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341550.1:n.-573A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "A",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354622.1:c.-686A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341551.1:n.-686A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 578,
          "referenceAllele": "A",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354623.1:c.-686A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341552.1:n.-686A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354624.1:c.-583A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341553.1:n.-583A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 437,
          "referenceAllele": "A",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354625.1:c.-486A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341554.1:n.-486A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 437,
          "referenceAllele": "A",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354626.1:c.-583A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341555.1:n.-583A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522567"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "A",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354627.1:c.-583A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341556.1:n.-583A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827906266",
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354628.1:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341557.1:p.Thr82Ala",
        "hgvsWellDefined": "NP_001341557.1:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "endIntronDirection": "-",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 405,
          "startIntronDirection": "-",
          "startIntronOffset": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354629.1:c.208-3410A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341558.1:n.208-3410A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038710",
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.1:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:p.Thr82Ala",
        "hgvsWellDefined": "NP_001341559.1:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 305,
          "referenceAllele": "A",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265161.2:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265218.1:p.Thr82Ala",
        "hgvsWellDefined": "XP_005265218.1:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 281,
          "referenceAllele": "A",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_017006450.2:c.-573A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861939.1:n.-573A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA194882",
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "A",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_000249.4:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000240.1:p.Thr82Ala",
        "hgvsWellDefined": "NP_000240.1:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231790.8:c.244A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000249.4:c.244A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231790.3:p.Thr82Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000240.1:p.Thr82Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.3:c.-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:n.-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "referenceAllele": "A",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.3:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.3:c.-388A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:n.-388A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826456753",
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "A",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258271.2:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245200.1:p.Thr82Ala",
        "hgvsWellDefined": "NP_001245200.1:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 183,
          "referenceAllele": "A",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258273.2:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245202.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "A",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.3:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "A",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354615.2:c.-383A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341544.1:n.-383A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720517"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "referenceAllele": "A",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354616.2:c.-388A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341545.1:n.-388A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "referenceAllele": "A",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354617.2:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341546.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354618.2:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341547.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 625,
          "referenceAllele": "A",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354619.2:c.-480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341548.1:n.-480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "referenceAllele": "A",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354620.2:c.-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341549.1:n.-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354621.2:c.-573A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341550.1:n.-573A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354622.2:c.-686A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341551.1:n.-686A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720524"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 410,
          "referenceAllele": "A",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354623.2:c.-686A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341552.1:n.-686A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "A",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354624.2:c.-583A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341553.1:n.-583A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720526"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "referenceAllele": "A",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354625.2:c.-486A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341554.1:n.-486A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "referenceAllele": "A",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354626.2:c.-583A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341555.1:n.-583A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354627.2:c.-583A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341556.1:n.-583A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827906266",
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "A",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354628.2:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341557.1:p.Thr82Ala",
        "hgvsWellDefined": "NP_001341557.1:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 237,
          "endIntronDirection": "-",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 237,
          "startIntronDirection": "-",
          "startIntronOffset": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354629.2:c.208-3410A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341558.1:n.208-3410A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038710",
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "A",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.2:c.244A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:p.Thr82Ala",
        "hgvsWellDefined": "NP_001341559.1:p.Thr82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720532"
    }
  ],
  "type": "nucleotide"
}