{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA006215",
  "communityStandardTitle": [
    "NM_000249.4(MLH1):c.1644C>G (p.Tyr548Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95289[alleleid]",
        "alleleId": 95289,
        "preferredName": "NM_000249.4(MLH1):c.1644C>G (p.Tyr548Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89815",
        "RCV": [
          "RCV000075289",
          "RCV002399440"
        ],
        "variationId": 89815
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.37081762C>G?assembly=hg19",
        "id": "chr3:g.37081762C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.37040271C>G?assembly=hg38",
        "id": "chr3:g.37040271C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63751087",
        "rs": 63751087
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 37040271,
          "referenceAllele": "C",
          "start": 37040270
        }
      ],
      "hgvs": [
        "NC_000003.12:g.37040271C>G",
        "CM000665.2:g.37040271C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 37081762,
          "referenceAllele": "C",
          "start": 37081761
        }
      ],
      "hgvs": [
        "NC_000003.11:g.37081762C>G",
        "CM000665.1:g.37081762C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 37056766,
          "referenceAllele": "C",
          "start": 37056765
        }
      ],
      "hgvs": [
        "NC_000003.10:g.37056766C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 51922,
          "referenceAllele": "C",
          "start": 51921
        }
      ],
      "hgvs": [
        "NG_007109.2:g.51922C>G",
        "LRG_216:g.51922C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000485"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1835,
          "referenceAllele": "C",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413740.2:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416476.2:p.Tyr548Ter",
        "hgvsWellDefined": "ENSP00000416476.2:p.Tyr548_Lys612del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1662,
          "referenceAllele": "C",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000429117.6:c.1350C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407019.2:p.Tyr450Ter",
        "hgvsWellDefined": "ENSP00000407019.2:p.Tyr450_Cys658delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1588,
          "endIntronDirection": "-",
          "endIntronOffset": 10214,
          "referenceAllele": "C",
          "start": 1588,
          "startIntronDirection": "-",
          "startIntronOffset": 10215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000450420.6:c.1559-10215C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393006.2:n.1559-10215C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000456676.7:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416687.3:p.Tyr548Ter",
        "hgvsWellDefined": "ENSP00000416687.3:p.Tyr548_Cys687delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000492474.6:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518393.1:p.Tyr307Ter",
        "hgvsWellDefined": "ENSP00000518393.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1720,
          "referenceAllele": "C",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000616768.6:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480669.3:p.Tyr548Ter",
        "hgvsWellDefined": "ENSP00000480669.3:p.Tyr548_Cys725delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1966,
          "referenceAllele": "C",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673673.2:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500979.2:p.Tyr548Ter",
        "hgvsWellDefined": "ENSP00000500979.2:p.Tyr548_Cys701delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000231790.8:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231790.3:p.Tyr548Ter",
        "hgvsWellDefined": "ENSP00000231790.3:p.Tyr548_Cys756delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740875",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231790.8:c.1644C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000249.4:c.1644C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231790.3:p.Tyr548Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000240.1:p.Tyr548Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1386,
          "referenceAllele": "C",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413212.2:c.*562C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400844.2:n.*562C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1647,
          "referenceAllele": "C",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000432299.6:c.*1476C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416783.1:n.*1476C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1740,
          "referenceAllele": "C",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000441265.6:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398392.2:p.Tyr307Ter",
        "hgvsWellDefined": "ENSP00000398392.2:p.Tyr307_Pro327delinsLeuLeuAsnThrThrLysLeuArgSerGlnHisArgSerLeuThrLeuProCysLeuProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1466,
          "referenceAllele": "C",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000447829.6:c.*755C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399329.2:n.*755C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000539477.6:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443665.1:p.Tyr307Ter",
        "hgvsWellDefined": "ENSP00000443665.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000616768.5:c.681C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480669.2:p.Tyr227Ter",
        "hgvsWellDefined": "ENSP00000480669.2:p.Tyr227_Cys404delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1597,
          "referenceAllele": "C",
          "start": 1596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673673.1:c.1597C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1669,
          "referenceAllele": "C",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673715.1:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501301.1:p.Tyr548Ter",
        "hgvsWellDefined": "ENSP00000501301.1:p.Tyr548_Val633delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673889.1:n.1026C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1570,
          "referenceAllele": "C",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673897.1:c.*1436C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501109.1:n.*1436C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 971,
          "referenceAllele": "C",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673899.1:c.912C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501030.1:p.Tyr304Ter",
        "hgvsWellDefined": "ENSP00000501030.1:p.Tyr304_Cys512delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673947.1:c.*1784C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501304.1:n.*1784C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1672,
          "referenceAllele": "C",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673972.1:c.*1522C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501281.1:n.*1522C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673990.1:n.1535C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1779,
          "referenceAllele": "C",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674019.1:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501081.1:p.Tyr307Ter",
        "hgvsWellDefined": "ENSP00000501081.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1697,
          "referenceAllele": "C",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674111.1:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501162.1:p.Tyr548Ter",
        "hgvsWellDefined": "ENSP00000501162.1:p.Tyr548_Pro568delinsLeuLeuAsnThrThrLysLeuArgSerGlnHisArgSerLeuThrLeuProCysLeuProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 355,
          "referenceAllele": "C",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674125.1:n.355C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1860,
          "referenceAllele": "C",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000231790.6:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231790.2:p.Tyr548Ter",
        "hgvsWellDefined": "ENSP00000231790.2:p.Tyr548_Cys756delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "C",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413740.1:c.267C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416476.1:p.Tyr89Ter",
        "hgvsWellDefined": "ENSP00000416476.1:p.Tyr89_Thr114del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1610,
          "referenceAllele": "C",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000435176.5:c.1350C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402564.1:p.Tyr450Ter",
        "hgvsWellDefined": "ENSP00000402564.1:p.Tyr450_Cys658delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 181,
          "endIntronDirection": "-",
          "endIntronOffset": 10214,
          "referenceAllele": "C",
          "start": 181,
          "startIntronDirection": "-",
          "startIntronOffset": 10215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000450420.5:c.182-10215C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393006.1:n.182-10215C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1616,
          "referenceAllele": "C",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000455445.6:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398272.2:p.Tyr307Ter",
        "hgvsWellDefined": "ENSP00000398272.2:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000456676.6:c.1619C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247416"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1788,
          "referenceAllele": "C",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000458205.6:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402667.2:p.Tyr307Ter",
        "hgvsWellDefined": "ENSP00000402667.2:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1751,
          "referenceAllele": "C",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000536378.5:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444286.2:p.Tyr307Ter",
        "hgvsWellDefined": "ENSP00000444286.2:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1550,
          "referenceAllele": "C",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000539477.5:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443665.1:p.Tyr307Ter",
        "hgvsWellDefined": "ENSP00000443665.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000616768.4:c.412C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA330762",
      "coordinates": [
        {
          "allele": "G",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_000249.3:c.1644C>G",
        "LRG_216t1:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000240.1:p.Tyr548Ter",
        "hgvsWellDefined": "NP_000240.1:p.Tyr548_Cys756delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826038929",
      "coordinates": [
        {
          "allele": "G",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.1:c.1350C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:p.Tyr450Ter",
        "hgvsWellDefined": "NP_001161089.1:p.Tyr450_Cys658delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826040771",
      "coordinates": [
        {
          "allele": "G",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.1:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001161090.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014973"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826042613",
      "coordinates": [
        {
          "allele": "G",
          "end": 1550,
          "referenceAllele": "C",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.1:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001161091.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826458395",
      "coordinates": [
        {
          "allele": "G",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258271.1:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245200.1:p.Tyr548Ter",
        "hgvsWellDefined": "NP_001245200.1:p.Tyr548_Cys687delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826459984",
      "coordinates": [
        {
          "allele": "G",
          "end": 1751,
          "referenceAllele": "C",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258273.1:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245202.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001245202.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826461826",
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "C",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.1:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001245203.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1525,
          "referenceAllele": "C",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265161.1:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265218.1:p.Tyr479Ter",
        "hgvsWellDefined": "XP_005265218.1:p.Tyr479_Cys687delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265163.1:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265220.1:p.Tyr307Ter",
        "hgvsWellDefined": "XP_005265220.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1695,
          "referenceAllele": "C",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265164.1:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265221.1:p.Tyr307Ter",
        "hgvsWellDefined": "XP_005265221.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1556,
          "referenceAllele": "C",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265166.1:c.621C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265223.1:p.Tyr207Ter",
        "hgvsWellDefined": "XP_005265223.1:p.Tyr207_Cys415delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1402,
          "referenceAllele": "C",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_011533727.1:c.570C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532029.1:p.Tyr190Ter",
        "hgvsWellDefined": "XP_011532029.1:p.Tyr190_Cys398delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826038929",
      "coordinates": [
        {
          "allele": "G",
          "end": 2064,
          "referenceAllele": "C",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.2:c.1350C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:p.Tyr450Ter",
        "hgvsWellDefined": "NP_001161089.1:p.Tyr450_Cys658delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826040771",
      "coordinates": [
        {
          "allele": "G",
          "end": 2064,
          "referenceAllele": "C",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.2:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001161090.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826042613",
      "coordinates": [
        {
          "allele": "G",
          "end": 1977,
          "referenceAllele": "C",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.2:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001161091.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826461826",
      "coordinates": [
        {
          "allele": "G",
          "end": 2214,
          "referenceAllele": "C",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.2:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001245203.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511992"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827885990",
      "coordinates": [
        {
          "allele": "G",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354615.1:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341544.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001341544.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827887834",
      "coordinates": [
        {
          "allele": "G",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354616.1:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341545.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001341545.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522557"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827889678",
      "coordinates": [
        {
          "allele": "G",
          "end": 1837,
          "referenceAllele": "C",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354617.1:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341546.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001341546.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827891518",
      "coordinates": [
        {
          "allele": "G",
          "end": 2069,
          "referenceAllele": "C",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354618.1:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341547.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001341547.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827893128",
      "coordinates": [
        {
          "allele": "G",
          "end": 2193,
          "referenceAllele": "C",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354619.1:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341548.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001341548.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827895292",
      "coordinates": [
        {
          "allele": "G",
          "end": 1832,
          "referenceAllele": "C",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354620.1:c.1350C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341549.1:p.Tyr450Ter",
        "hgvsWellDefined": "NP_001341549.1:p.Tyr450_Cys658delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827896761",
      "coordinates": [
        {
          "allele": "G",
          "end": 1862,
          "referenceAllele": "C",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354621.1:c.621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341550.1:p.Tyr207Ter",
        "hgvsWellDefined": "NP_001341550.1:p.Tyr207_Cys415delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827898232",
      "coordinates": [
        {
          "allele": "G",
          "end": 1975,
          "referenceAllele": "C",
          "start": 1974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354622.1:c.621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341551.1:p.Tyr207Ter",
        "hgvsWellDefined": "NP_001341551.1:p.Tyr207_Cys415delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827899516",
      "coordinates": [
        {
          "allele": "G",
          "end": 1884,
          "referenceAllele": "C",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354623.1:c.621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341552.1:p.Tyr207Ter",
        "hgvsWellDefined": "NP_001341552.1:p.Tyr207_Cys415delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827900925",
      "coordinates": [
        {
          "allele": "G",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354624.1:c.570C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341553.1:p.Tyr190Ter",
        "hgvsWellDefined": "NP_001341553.1:p.Tyr190_Cys398delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827902336",
      "coordinates": [
        {
          "allele": "G",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354625.1:c.570C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341554.1:p.Tyr190Ter",
        "hgvsWellDefined": "NP_001341554.1:p.Tyr190_Cys398delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827903746",
      "coordinates": [
        {
          "allele": "G",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354626.1:c.570C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341555.1:p.Tyr190Ter",
        "hgvsWellDefined": "NP_001341555.1:p.Tyr190_Cys398delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827905702",
      "coordinates": [
        {
          "allele": "G",
          "end": 1821,
          "referenceAllele": "C",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354627.1:c.570C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341556.1:p.Tyr190Ter",
        "hgvsWellDefined": "NP_001341556.1:p.Tyr190_Cys398delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827907910",
      "coordinates": [
        {
          "allele": "G",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354628.1:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341557.1:p.Tyr548Ter",
        "hgvsWellDefined": "NP_001341557.1:p.Tyr548_Cys725delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827910216",
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "C",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354629.1:c.1545C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341558.1:p.Tyr515Ter",
        "hgvsWellDefined": "NP_001341558.1:p.Tyr515_Cys723delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038985",
      "coordinates": [
        {
          "allele": "G",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.1:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:p.Tyr548Ter",
        "hgvsWellDefined": "NP_001341559.1:p.Tyr548_Cys701delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1498,
          "referenceAllele": "C",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265161.2:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265218.1:p.Tyr479Ter",
        "hgvsWellDefined": "XP_005265218.1:p.Tyr479_Cys687delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_017006450.2:c.621C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861939.1:p.Tyr207Ter",
        "hgvsWellDefined": "XP_016861939.1:p.Tyr207_Cys415delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA330762",
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_000249.4:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000240.1:p.Tyr548Ter",
        "hgvsWellDefined": "NP_000240.1:p.Tyr548_Cys756delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231790.8:c.1644C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000249.4:c.1644C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231790.3:p.Tyr548Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000240.1:p.Tyr548Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826038929",
      "coordinates": [
        {
          "allele": "G",
          "end": 1896,
          "referenceAllele": "C",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.3:c.1350C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:p.Tyr450Ter",
        "hgvsWellDefined": "NP_001161089.1:p.Tyr450_Cys658delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713242"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826040771",
      "coordinates": [
        {
          "allele": "G",
          "end": 1896,
          "referenceAllele": "C",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.3:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001161090.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826042613",
      "coordinates": [
        {
          "allele": "G",
          "end": 1809,
          "referenceAllele": "C",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.3:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001161091.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826458395",
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258271.2:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245200.1:p.Tyr548Ter",
        "hgvsWellDefined": "NP_001245200.1:p.Tyr548_Cys687delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714924"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826459984",
      "coordinates": [
        {
          "allele": "G",
          "end": 1583,
          "referenceAllele": "C",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258273.2:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245202.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001245202.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826461826",
      "coordinates": [
        {
          "allele": "G",
          "end": 2046,
          "referenceAllele": "C",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.3:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001245203.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827885990",
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "C",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354615.2:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341544.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001341544.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720517"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827887834",
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "C",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354616.2:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341545.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001341545.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720518"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827889678",
      "coordinates": [
        {
          "allele": "G",
          "end": 1669,
          "referenceAllele": "C",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354617.2:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341546.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001341546.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827891518",
      "coordinates": [
        {
          "allele": "G",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354618.2:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341547.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001341547.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827893128",
      "coordinates": [
        {
          "allele": "G",
          "end": 2025,
          "referenceAllele": "C",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354619.2:c.921C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341548.1:p.Tyr307Ter",
        "hgvsWellDefined": "NP_001341548.1:p.Tyr307_Cys515delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720521"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827895292",
      "coordinates": [
        {
          "allele": "G",
          "end": 1664,
          "referenceAllele": "C",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354620.2:c.1350C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341549.1:p.Tyr450Ter",
        "hgvsWellDefined": "NP_001341549.1:p.Tyr450_Cys658delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827896761",
      "coordinates": [
        {
          "allele": "G",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354621.2:c.621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341550.1:p.Tyr207Ter",
        "hgvsWellDefined": "NP_001341550.1:p.Tyr207_Cys415delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827898232",
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "C",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354622.2:c.621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341551.1:p.Tyr207Ter",
        "hgvsWellDefined": "NP_001341551.1:p.Tyr207_Cys415delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827899516",
      "coordinates": [
        {
          "allele": "G",
          "end": 1716,
          "referenceAllele": "C",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354623.2:c.621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341552.1:p.Tyr207Ter",
        "hgvsWellDefined": "NP_001341552.1:p.Tyr207_Cys415delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720525"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827900925",
      "coordinates": [
        {
          "allele": "G",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354624.2:c.570C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341553.1:p.Tyr190Ter",
        "hgvsWellDefined": "NP_001341553.1:p.Tyr190_Cys398delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827902336",
      "coordinates": [
        {
          "allele": "G",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354625.2:c.570C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341554.1:p.Tyr190Ter",
        "hgvsWellDefined": "NP_001341554.1:p.Tyr190_Cys398delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827903746",
      "coordinates": [
        {
          "allele": "G",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354626.2:c.570C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341555.1:p.Tyr190Ter",
        "hgvsWellDefined": "NP_001341555.1:p.Tyr190_Cys398delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827905702",
      "coordinates": [
        {
          "allele": "G",
          "end": 1653,
          "referenceAllele": "C",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354627.2:c.570C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341556.1:p.Tyr190Ter",
        "hgvsWellDefined": "NP_001341556.1:p.Tyr190_Cys398delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827907910",
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354628.2:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341557.1:p.Tyr548Ter",
        "hgvsWellDefined": "NP_001341557.1:p.Tyr548_Cys725delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720530"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827910216",
      "coordinates": [
        {
          "allele": "G",
          "end": 1575,
          "referenceAllele": "C",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354629.2:c.1545C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341558.1:p.Tyr515Ter",
        "hgvsWellDefined": "NP_001341558.1:p.Tyr515_Cys723delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038985",
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.2:c.1644C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:p.Tyr548Ter",
        "hgvsWellDefined": "NP_001341559.1:p.Tyr548_Cys701delinsLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720532"
    }
  ],
  "type": "nucleotide"
}