{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA009656",
  "communityStandardTitle": [
    "NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94722[alleleid]",
        "alleleId": 94722,
        "preferredName": "NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89248",
        "RCV": [
          "RCV000822642",
          "RCV001186406",
          "RCV003450940"
        ],
        "variationId": 89248
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48027202T>C?assembly=hg19",
        "id": "chr2:g.48027202T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47800063T>C?assembly=hg38",
        "id": "chr2:g.47800063T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587779228",
        "rs": 587779228
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-47800063-T-C?dataset=gnomad_r4",
        "id": "2-47800063-T-C",
        "variant": "2:47800063 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 47800063,
          "referenceAllele": "T",
          "start": 47800062
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47800063T>C",
        "CM000664.2:g.47800063T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 48027202,
          "referenceAllele": "T",
          "start": 48027201
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48027202T>C",
        "CM000664.1:g.48027202T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 47880706,
          "referenceAllele": "T",
          "start": 47880705
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47880706T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21917,
          "referenceAllele": "T",
          "start": 21916
        }
      ],
      "hgvs": [
        "NG_007111.1:g.21917T>C",
        "LRG_219:g.21917T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1878,
          "referenceAllele": "T",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000411819.2:c.1783T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406248.2:p.Cys595Arg",
        "hgvsWellDefined": "ENSP00000406248.2:p.Cys595Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2010,
          "referenceAllele": "T",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000420813.6:c.1783T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390382.2:p.Cys595Arg",
        "hgvsWellDefined": "ENSP00000390382.2:p.Cys595Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2014,
          "referenceAllele": "T",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000455383.6:c.1783T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397484.2:p.Cys595Arg",
        "hgvsWellDefined": "ENSP00000397484.2:p.Cys595Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2164,
          "referenceAllele": "T",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.2:c.2080T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.2:p.Cys694Arg",
        "hgvsWellDefined": "ENSP00000514752.2:p.Cys694Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2164,
          "referenceAllele": "T",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000699999.1:n.2164T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "endIntronDirection": "+",
          "endIntronOffset": 474,
          "referenceAllele": "T",
          "start": 1689,
          "startIntronDirection": "+",
          "startIntronOffset": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700000.1:c.1606+474T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514749.1:n.1606+474T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2158,
          "referenceAllele": "T",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700002.1:c.2086T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514750.1:p.Cys696Arg",
        "hgvsWellDefined": "ENSP00000514750.1:p.Cys696Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 627,
          "endIntronDirection": "-",
          "endIntronOffset": 3356,
          "referenceAllele": "T",
          "start": 627,
          "startIntronDirection": "-",
          "startIntronOffset": 3357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700003.1:c.628-3357T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514751.1:n.628-3357T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1237,
          "referenceAllele": "T",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.1:c.1237T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.1:p.Cys413Arg",
        "hgvsWellDefined": "ENSP00000514752.1:p.Cys413Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2169,
          "referenceAllele": "T",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.11:c.2080T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.5:p.Cys694Arg",
        "hgvsWellDefined": "ENSP00000234420.5:p.Cys694Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.2080T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.2080T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Cys694Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Cys694Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1741,
          "referenceAllele": "T",
          "start": 1740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.6:c.1690T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Cys564Arg",
        "hgvsWellDefined": "ENSP00000446475.1:p.Cys564Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2463,
          "referenceAllele": "T",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000652107.1:c.1783T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498629.1:p.Cys595Arg",
        "hgvsWellDefined": "ENSP00000498629.1:p.Cys595Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1901,
          "referenceAllele": "T",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673637.1:c.1783T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501310.1:p.Cys595Arg",
        "hgvsWellDefined": "ENSP00000501310.1:p.Cys595Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2232,
          "referenceAllele": "T",
          "start": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.9:c.2080T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.4:p.Cys694Arg",
        "hgvsWellDefined": "ENSP00000234420.4:p.Cys694Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 8132,
          "referenceAllele": "A",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 8131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000405808.5:c.169+8132A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385127.1:n.169+8132A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 7931,
          "referenceAllele": "A",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 7930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000434234.5:c.*124+7931A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402692.1:n.*124+7931A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2062,
          "referenceAllele": "T",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000445503.5:c.*1427T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405294.1:n.*1427T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1967,
          "referenceAllele": "T",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000538136.1:c.1174T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438580.1:p.Cys392Arg",
        "hgvsWellDefined": "ENSP00000438580.1:p.Cys392Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1842,
          "referenceAllele": "T",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.5:c.1690T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Cys564Arg",
        "hgvsWellDefined": "ENSP00000446475.1:p.Cys564Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2062,
          "referenceAllele": "T",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000614496.4:c.1174T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477844.1:p.Cys392Arg",
        "hgvsWellDefined": "ENSP00000477844.1:p.Cys392Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2160,
          "referenceAllele": "T",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000616033.4:c.2077T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480261.1:p.Cys693Arg",
        "hgvsWellDefined": "ENSP00000480261.1:p.Cys693Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2232,
          "referenceAllele": "T",
          "start": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000622629.4:c.-1017T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482078.1:n.-1017T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA330406",
      "coordinates": [
        {
          "allele": "C",
          "end": 2232,
          "referenceAllele": "T",
          "start": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.2:c.2080T>C",
        "LRG_219t1:c.2080T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Cys694Arg",
        "hgvsWellDefined": "NP_000170.1:p.Cys694Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006241"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826626828",
      "coordinates": [
        {
          "allele": "C",
          "end": 1842,
          "referenceAllele": "T",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.1:c.1690T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Cys564Arg",
        "hgvsWellDefined": "NP_001268421.1:p.Cys564Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021654"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826631175",
      "coordinates": [
        {
          "allele": "C",
          "end": 2062,
          "referenceAllele": "T",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.1:c.1174T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Cys392Arg",
        "hgvsWellDefined": "NP_001268422.1:p.Cys392Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826635704",
      "coordinates": [
        {
          "allele": "C",
          "end": 1967,
          "referenceAllele": "T",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.1:c.1174T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Cys392Arg",
        "hgvsWellDefined": "NP_001268423.1:p.Cys392Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021656"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1878,
          "referenceAllele": "T",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_005264271.1:c.1783T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264328.1:p.Cys595Arg",
        "hgvsWellDefined": "XP_005264328.1:p.Cys595Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1939,
          "referenceAllele": "T",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532798.1:c.1897T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531100.1:p.Cys633Arg",
        "hgvsWellDefined": "XP_011531100.1:p.Cys633Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2014,
          "referenceAllele": "T",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532799.1:c.1783T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531101.1:p.Cys595Arg",
        "hgvsWellDefined": "XP_011531101.1:p.Cys595Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1895,
          "referenceAllele": "T",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532800.1:c.1783T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531102.1:p.Cys595Arg",
        "hgvsWellDefined": "XP_011531102.1:p.Cys595Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2169,
          "referenceAllele": "T",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452819.1:c.2080T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308587.1:p.Cys694Arg",
        "hgvsWellDefined": "XP_024308587.1:p.Cys694Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1939,
          "referenceAllele": "T",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452820.1:c.1897T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308588.1:p.Cys633Arg",
        "hgvsWellDefined": "XP_024308588.1:p.Cys633Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2014,
          "referenceAllele": "T",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452821.1:c.1783T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308589.1:p.Cys595Arg",
        "hgvsWellDefined": "XP_024308589.1:p.Cys595Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1966,
          "referenceAllele": "T",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452822.1:c.1174T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308590.1:p.Cys392Arg",
        "hgvsWellDefined": "XP_024308590.1:p.Cys392Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA330406",
      "coordinates": [
        {
          "allele": "C",
          "end": 2169,
          "referenceAllele": "T",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.3:c.2080T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Cys694Arg",
        "hgvsWellDefined": "NP_000170.1:p.Cys694Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.2080T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.2080T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Cys694Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Cys694Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826626828",
      "coordinates": [
        {
          "allele": "C",
          "end": 1779,
          "referenceAllele": "T",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.2:c.1690T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Cys564Arg",
        "hgvsWellDefined": "NP_001268421.1:p.Cys564Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826631175",
      "coordinates": [
        {
          "allele": "C",
          "end": 1999,
          "referenceAllele": "T",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.2:c.1174T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Cys392Arg",
        "hgvsWellDefined": "NP_001268422.1:p.Cys392Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826635704",
      "coordinates": [
        {
          "allele": "C",
          "end": 1967,
          "referenceAllele": "T",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.2:c.1174T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Cys392Arg",
        "hgvsWellDefined": "NP_001268423.1:p.Cys392Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715704"
    }
  ],
  "type": "nucleotide"
}