{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA010764",
  "communityStandardTitle": [
    "NM_000179.3(MSH6):c.2702G>A (p.Arg901His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94783[alleleid]",
        "alleleId": 94783,
        "preferredName": "NM_000179.3(MSH6):c.2702G>A (p.Arg901His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89309",
        "RCV": [
          "RCV000559913",
          "RCV000570122",
          "RCV001561918",
          "RCV003460671",
          "RCV003997081"
        ],
        "variationId": 89309
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48027824G>A?assembly=hg19",
        "id": "chr2:g.48027824G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47800685G>A?assembly=hg38",
        "id": "chr2:g.47800685G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63749889",
        "rs": 63749889
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-48027824-G-A?dataset=gnomad_r2_1",
        "id": "2-48027824-G-A",
        "variant": "2:48027824 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-47800685-G-A?dataset=gnomad_r3",
        "id": "2-47800685-G-A",
        "variant": "2:47800685 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-47800685-G-A?dataset=gnomad_r4",
        "id": "2-47800685-G-A",
        "variant": "2:47800685 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 47800685,
          "referenceAllele": "G",
          "start": 47800684
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47800685G>A",
        "CM000664.2:g.47800685G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 48027824,
          "referenceAllele": "G",
          "start": 48027823
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48027824G>A",
        "CM000664.1:g.48027824G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 47881328,
          "referenceAllele": "G",
          "start": 47881327
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47881328G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22539,
          "referenceAllele": "G",
          "start": 22538
        }
      ],
      "hgvs": [
        "NG_007111.1:g.22539G>A",
        "LRG_219:g.22539G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2500,
          "referenceAllele": "G",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000411819.2:c.2405G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406248.2:p.Arg802His",
        "hgvsWellDefined": "ENSP00000406248.2:p.Arg802His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2632,
          "referenceAllele": "G",
          "start": 2631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000420813.6:c.2405G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390382.2:p.Arg802His",
        "hgvsWellDefined": "ENSP00000390382.2:p.Arg802His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2636,
          "referenceAllele": "G",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000455383.6:c.2405G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397484.2:p.Arg802His",
        "hgvsWellDefined": "ENSP00000397484.2:p.Arg802His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.2:c.2702G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.2:p.Arg901His",
        "hgvsWellDefined": "ENSP00000514752.2:p.Arg901His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000699999.1:n.2786G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1689,
          "endIntronDirection": "+",
          "endIntronOffset": 1096,
          "referenceAllele": "G",
          "start": 1689,
          "startIntronDirection": "+",
          "startIntronOffset": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700000.1:c.1606+1096G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514749.1:n.1606+1096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2780,
          "referenceAllele": "G",
          "start": 2779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700002.1:c.2708G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514750.1:p.Arg903His",
        "hgvsWellDefined": "ENSP00000514750.1:p.Arg903His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 627,
          "endIntronDirection": "-",
          "endIntronOffset": 2734,
          "referenceAllele": "G",
          "start": 627,
          "startIntronDirection": "-",
          "startIntronOffset": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700003.1:c.628-2735G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514751.1:n.628-2735G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1859,
          "referenceAllele": "G",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.1:c.1859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.1:p.Arg620His",
        "hgvsWellDefined": "ENSP00000514752.1:p.Arg620His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2791,
          "referenceAllele": "G",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.11:c.2702G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.5:p.Arg901His",
        "hgvsWellDefined": "ENSP00000234420.5:p.Arg901His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.2702G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.2702G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Arg901His"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Arg901His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2363,
          "referenceAllele": "G",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.6:c.2312G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Arg771His",
        "hgvsWellDefined": "ENSP00000446475.1:p.Arg771His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3085,
          "referenceAllele": "G",
          "start": 3084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000652107.1:c.2405G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498629.1:p.Arg802His",
        "hgvsWellDefined": "ENSP00000498629.1:p.Arg802His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2523,
          "referenceAllele": "G",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673637.1:c.2405G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501310.1:p.Arg802His",
        "hgvsWellDefined": "ENSP00000501310.1:p.Arg802His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2854,
          "referenceAllele": "G",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.9:c.2702G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.4:p.Arg901His",
        "hgvsWellDefined": "ENSP00000234420.4:p.Arg901His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 7510,
          "referenceAllele": "C",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 7509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000405808.5:c.169+7510C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385127.1:n.169+7510C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 7309,
          "referenceAllele": "C",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 7308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000434234.5:c.*124+7309C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402692.1:n.*124+7309C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2684,
          "referenceAllele": "G",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000445503.5:c.*2049G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405294.1:n.*2049G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000538136.1:c.1796G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438580.1:p.Arg599His",
        "hgvsWellDefined": "ENSP00000438580.1:p.Arg599His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2464,
          "referenceAllele": "G",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.5:c.2312G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Arg771His",
        "hgvsWellDefined": "ENSP00000446475.1:p.Arg771His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2684,
          "referenceAllele": "G",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000614496.4:c.1796G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477844.1:p.Arg599His",
        "hgvsWellDefined": "ENSP00000477844.1:p.Arg599His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2782,
          "referenceAllele": "G",
          "start": 2781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000616033.4:c.2699G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480261.1:p.Arg900His",
        "hgvsWellDefined": "ENSP00000480261.1:p.Arg900His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2854,
          "referenceAllele": "G",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000622629.4:c.-395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482078.1:n.-395G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA330465",
      "coordinates": [
        {
          "allele": "A",
          "end": 2854,
          "referenceAllele": "G",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.2:c.2702G>A",
        "LRG_219t1:c.2702G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Arg901His",
        "hgvsWellDefined": "NP_000170.1:p.Arg901His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006241"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826627702",
      "coordinates": [
        {
          "allele": "A",
          "end": 2464,
          "referenceAllele": "G",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.1:c.2312G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Arg771His",
        "hgvsWellDefined": "NP_001268421.1:p.Arg771His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021654"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826632058",
      "coordinates": [
        {
          "allele": "A",
          "end": 2684,
          "referenceAllele": "G",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.1:c.1796G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Arg599His",
        "hgvsWellDefined": "NP_001268422.1:p.Arg599His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826636585",
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.1:c.1796G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Arg599His",
        "hgvsWellDefined": "NP_001268423.1:p.Arg599His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2500,
          "referenceAllele": "G",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_005264271.1:c.2405G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264328.1:p.Arg802His",
        "hgvsWellDefined": "XP_005264328.1:p.Arg802His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2561,
          "referenceAllele": "G",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532798.1:c.2519G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531100.1:p.Arg840His",
        "hgvsWellDefined": "XP_011531100.1:p.Arg840His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2636,
          "referenceAllele": "G",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532799.1:c.2405G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531101.1:p.Arg802His",
        "hgvsWellDefined": "XP_011531101.1:p.Arg802His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "G",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532800.1:c.2405G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531102.1:p.Arg802His",
        "hgvsWellDefined": "XP_011531102.1:p.Arg802His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2791,
          "referenceAllele": "G",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452819.1:c.2702G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308587.1:p.Arg901His",
        "hgvsWellDefined": "XP_024308587.1:p.Arg901His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2561,
          "referenceAllele": "G",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452820.1:c.2519G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308588.1:p.Arg840His",
        "hgvsWellDefined": "XP_024308588.1:p.Arg840His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2636,
          "referenceAllele": "G",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452821.1:c.2405G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308589.1:p.Arg802His",
        "hgvsWellDefined": "XP_024308589.1:p.Arg802His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2588,
          "referenceAllele": "G",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452822.1:c.1796G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308590.1:p.Arg599His",
        "hgvsWellDefined": "XP_024308590.1:p.Arg599His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA330465",
      "coordinates": [
        {
          "allele": "A",
          "end": 2791,
          "referenceAllele": "G",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.3:c.2702G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Arg901His",
        "hgvsWellDefined": "NP_000170.1:p.Arg901His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.2702G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.2702G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Arg901His"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Arg901His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826627702",
      "coordinates": [
        {
          "allele": "A",
          "end": 2401,
          "referenceAllele": "G",
          "start": 2400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.2:c.2312G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Arg771His",
        "hgvsWellDefined": "NP_001268421.1:p.Arg771His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826632058",
      "coordinates": [
        {
          "allele": "A",
          "end": 2621,
          "referenceAllele": "G",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.2:c.1796G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Arg599His",
        "hgvsWellDefined": "NP_001268422.1:p.Arg599His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826636585",
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.2:c.1796G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Arg599His",
        "hgvsWellDefined": "NP_001268423.1:p.Arg599His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715704"
    }
  ],
  "type": "nucleotide"
}