{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA011105",
  "communityStandardTitle": [
    "NM_000179.3(MSH6):c.2927G>A (p.Arg976His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1021289",
        "active": true,
        "id": "COSM1021289"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94796[alleleid]",
        "alleleId": 94796,
        "preferredName": "NM_000179.3(MSH6):c.2927G>A (p.Arg976His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89322",
        "RCV": [
          "RCV000218618",
          "RCV000455514",
          "RCV000629775",
          "RCV002273954",
          "RCV003460673"
        ],
        "variationId": 89322
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48028049G>A?assembly=hg19",
        "id": "chr2:g.48028049G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47800910G>A?assembly=hg38",
        "id": "chr2:g.47800910G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63751113",
        "rs": 63751113
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-47800910-G-A?dataset=gnomad_r4",
        "id": "2-47800910-G-A",
        "variant": "2:47800910 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 47800910,
          "referenceAllele": "G",
          "start": 47800909
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47800910G>A",
        "CM000664.2:g.47800910G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 48028049,
          "referenceAllele": "G",
          "start": 48028048
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48028049G>A",
        "CM000664.1:g.48028049G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 47881553,
          "referenceAllele": "G",
          "start": 47881552
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47881553G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22764,
          "referenceAllele": "G",
          "start": 22763
        }
      ],
      "hgvs": [
        "NG_007111.1:g.22764G>A",
        "LRG_219:g.22764G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2725,
          "referenceAllele": "G",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000411819.2:c.2630G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406248.2:p.Arg877His",
        "hgvsWellDefined": "ENSP00000406248.2:p.Arg877His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2857,
          "referenceAllele": "G",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000420813.6:c.2630G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390382.2:p.Arg877His",
        "hgvsWellDefined": "ENSP00000390382.2:p.Arg877His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000455383.6:c.2630G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397484.2:p.Arg877His",
        "hgvsWellDefined": "ENSP00000397484.2:p.Arg877His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3011,
          "referenceAllele": "G",
          "start": 3010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.2:c.2927G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.2:p.Arg976His",
        "hgvsWellDefined": "ENSP00000514752.2:p.Arg976His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3011,
          "referenceAllele": "G",
          "start": 3010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000699999.1:n.3011G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1689,
          "endIntronDirection": "+",
          "endIntronOffset": 1321,
          "referenceAllele": "G",
          "start": 1689,
          "startIntronDirection": "+",
          "startIntronOffset": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700000.1:c.1606+1321G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514749.1:n.1606+1321G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3005,
          "referenceAllele": "G",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700002.1:c.2933G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514750.1:p.Arg978His",
        "hgvsWellDefined": "ENSP00000514750.1:p.Arg978His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 627,
          "endIntronDirection": "-",
          "endIntronOffset": 2509,
          "referenceAllele": "G",
          "start": 627,
          "startIntronDirection": "-",
          "startIntronOffset": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700003.1:c.628-2510G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514751.1:n.628-2510G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "G",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.1:c.2084G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.1:p.Arg695His",
        "hgvsWellDefined": "ENSP00000514752.1:p.Arg695His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3016,
          "referenceAllele": "G",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.11:c.2927G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.5:p.Arg976His",
        "hgvsWellDefined": "ENSP00000234420.5:p.Arg976His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.2927G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.2927G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Arg976His"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Arg976His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2588,
          "referenceAllele": "G",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.6:c.2537G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Arg846His",
        "hgvsWellDefined": "ENSP00000446475.1:p.Arg846His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3310,
          "referenceAllele": "G",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000652107.1:c.2630G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498629.1:p.Arg877His",
        "hgvsWellDefined": "ENSP00000498629.1:p.Arg877His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2748,
          "referenceAllele": "G",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673637.1:c.2630G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501310.1:p.Arg877His",
        "hgvsWellDefined": "ENSP00000501310.1:p.Arg877His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3079,
          "referenceAllele": "G",
          "start": 3078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.9:c.2927G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.4:p.Arg976His",
        "hgvsWellDefined": "ENSP00000234420.4:p.Arg976His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 7285,
          "referenceAllele": "C",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 7284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000405808.5:c.169+7285C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385127.1:n.169+7285C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 7084,
          "referenceAllele": "C",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 7083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000434234.5:c.*124+7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402692.1:n.*124+7084C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2909,
          "referenceAllele": "G",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000445503.5:c.*2274G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405294.1:n.*2274G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2814,
          "referenceAllele": "G",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000538136.1:c.2021G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438580.1:p.Arg674His",
        "hgvsWellDefined": "ENSP00000438580.1:p.Arg674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2689,
          "referenceAllele": "G",
          "start": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.5:c.2537G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Arg846His",
        "hgvsWellDefined": "ENSP00000446475.1:p.Arg846His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2909,
          "referenceAllele": "G",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000614496.4:c.2021G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477844.1:p.Arg674His",
        "hgvsWellDefined": "ENSP00000477844.1:p.Arg674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3007,
          "referenceAllele": "G",
          "start": 3006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000616033.4:c.2924G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480261.1:p.Arg975His",
        "hgvsWellDefined": "ENSP00000480261.1:p.Arg975His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3079,
          "referenceAllele": "G",
          "start": 3078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000622629.4:c.-170G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482078.1:n.-170G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA330481",
      "coordinates": [
        {
          "allele": "A",
          "end": 3079,
          "referenceAllele": "G",
          "start": 3078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.2:c.2927G>A",
        "LRG_219t1:c.2927G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Arg976His",
        "hgvsWellDefined": "NP_000170.1:p.Arg976His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006241"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826628018",
      "coordinates": [
        {
          "allele": "A",
          "end": 2689,
          "referenceAllele": "G",
          "start": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.1:c.2537G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Arg846His",
        "hgvsWellDefined": "NP_001268421.1:p.Arg846His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021654"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826632369",
      "coordinates": [
        {
          "allele": "A",
          "end": 2909,
          "referenceAllele": "G",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.1:c.2021G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Arg674His",
        "hgvsWellDefined": "NP_001268422.1:p.Arg674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826636897",
      "coordinates": [
        {
          "allele": "A",
          "end": 2814,
          "referenceAllele": "G",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.1:c.2021G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Arg674His",
        "hgvsWellDefined": "NP_001268423.1:p.Arg674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2725,
          "referenceAllele": "G",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_005264271.1:c.2630G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264328.1:p.Arg877His",
        "hgvsWellDefined": "XP_005264328.1:p.Arg877His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532798.1:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531100.1:p.Arg915His",
        "hgvsWellDefined": "XP_011531100.1:p.Arg915His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532799.1:c.2630G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531101.1:p.Arg877His",
        "hgvsWellDefined": "XP_011531101.1:p.Arg877His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2742,
          "referenceAllele": "G",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532800.1:c.2630G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531102.1:p.Arg877His",
        "hgvsWellDefined": "XP_011531102.1:p.Arg877His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3016,
          "referenceAllele": "G",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452819.1:c.2927G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308587.1:p.Arg976His",
        "hgvsWellDefined": "XP_024308587.1:p.Arg976His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452820.1:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308588.1:p.Arg915His",
        "hgvsWellDefined": "XP_024308588.1:p.Arg915His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452821.1:c.2630G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308589.1:p.Arg877His",
        "hgvsWellDefined": "XP_024308589.1:p.Arg877His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2813,
          "referenceAllele": "G",
          "start": 2812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452822.1:c.2021G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308590.1:p.Arg674His",
        "hgvsWellDefined": "XP_024308590.1:p.Arg674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA330481",
      "coordinates": [
        {
          "allele": "A",
          "end": 3016,
          "referenceAllele": "G",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.3:c.2927G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Arg976His",
        "hgvsWellDefined": "NP_000170.1:p.Arg976His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.2927G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.2927G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Arg976His"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Arg976His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826628018",
      "coordinates": [
        {
          "allele": "A",
          "end": 2626,
          "referenceAllele": "G",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.2:c.2537G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Arg846His",
        "hgvsWellDefined": "NP_001268421.1:p.Arg846His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826632369",
      "coordinates": [
        {
          "allele": "A",
          "end": 2846,
          "referenceAllele": "G",
          "start": 2845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.2:c.2021G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Arg674His",
        "hgvsWellDefined": "NP_001268422.1:p.Arg674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826636897",
      "coordinates": [
        {
          "allele": "A",
          "end": 2814,
          "referenceAllele": "G",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.2:c.2021G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Arg674His",
        "hgvsWellDefined": "NP_001268423.1:p.Arg674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715704"
    }
  ],
  "type": "nucleotide"
}