{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA013478",
  "communityStandardTitle": [
    "NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94896[alleleid]",
        "alleleId": 94896,
        "preferredName": "NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89422",
        "RCV": [
          "RCV000166108",
          "RCV000679239",
          "RCV001302789",
          "RCV003230394",
          "RCV003450974",
          "RCV003460687",
          "RCV003997093"
        ],
        "variationId": 89422
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48032777G>A?assembly=hg19",
        "id": "chr2:g.48032777G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47805638G>A?assembly=hg38",
        "id": "chr2:g.47805638G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63751328",
        "rs": 63751328
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 47805638,
          "referenceAllele": "G",
          "start": 47805637
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47805638G>A",
        "CM000664.2:g.47805638G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 48032777,
          "referenceAllele": "G",
          "start": 48032776
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48032777G>A",
        "CM000664.1:g.48032777G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 47886281,
          "referenceAllele": "G",
          "start": 47886280
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47886281G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27492,
          "referenceAllele": "G",
          "start": 27491
        }
      ],
      "hgvs": [
        "NG_007111.1:g.27492G>A",
        "LRG_219:g.27492G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105038,
          "referenceAllele": "C",
          "start": 105037
        }
      ],
      "hgvs": [
        "NG_008397.1:g.105038C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001078"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3375,
          "referenceAllele": "G",
          "start": 3374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000411819.2:c.3280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406248.2:p.Glu1094Lys",
        "hgvsWellDefined": "ENSP00000406248.2:p.Glu1094Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3507,
          "referenceAllele": "G",
          "start": 3506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000420813.6:c.3280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390382.2:p.Glu1094Lys",
        "hgvsWellDefined": "ENSP00000390382.2:p.Glu1094Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3511,
          "referenceAllele": "G",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000455383.6:c.3280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397484.2:p.Glu1094Lys",
        "hgvsWellDefined": "ENSP00000397484.2:p.Glu1094Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3277,
          "referenceAllele": "G",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.2:c.3193G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.2:p.Glu1065Lys",
        "hgvsWellDefined": "ENSP00000514752.2:p.Glu1065Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4251,
          "referenceAllele": "G",
          "start": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000699999.1:n.4251G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2094,
          "referenceAllele": "G",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700000.1:c.2011G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514749.1:p.Glu671Lys",
        "hgvsWellDefined": "ENSP00000514749.1:p.Glu671Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3655,
          "referenceAllele": "G",
          "start": 3654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700002.1:c.3583G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514750.1:p.Glu1195Lys",
        "hgvsWellDefined": "ENSP00000514750.1:p.Glu1195Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1032,
          "referenceAllele": "G",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700003.1:c.1032G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514751.1:n.1032G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2350,
          "referenceAllele": "G",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.1:c.2350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.1:p.Glu784Lys",
        "hgvsWellDefined": "ENSP00000514752.1:p.Glu784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2428,
          "referenceAllele": "G",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700005.1:n.2428G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4239,
          "referenceAllele": "G",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700006.1:n.4239G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2172,
          "referenceAllele": "G",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700007.1:n.2172G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1746,
          "referenceAllele": "G",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700008.1:n.1746G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700009.1:n.1745G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700010.1:n.986G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2871,
          "referenceAllele": "G",
          "start": 2870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700011.1:n.2871G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3666,
          "referenceAllele": "G",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.11:c.3577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.5:p.Glu1193Lys",
        "hgvsWellDefined": "ENSP00000234420.5:p.Glu1193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.3577G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.3577G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Glu1193Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Glu1193Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3238,
          "referenceAllele": "G",
          "start": 3237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.6:c.3187G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Glu1063Lys",
        "hgvsWellDefined": "ENSP00000446475.1:p.Glu1063Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3960,
          "referenceAllele": "G",
          "start": 3959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000652107.1:c.3280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498629.1:p.Glu1094Lys",
        "hgvsWellDefined": "ENSP00000498629.1:p.Glu1094Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3398,
          "referenceAllele": "G",
          "start": 3397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673637.1:c.3280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501310.1:p.Glu1094Lys",
        "hgvsWellDefined": "ENSP00000501310.1:p.Glu1094Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3729,
          "referenceAllele": "G",
          "start": 3728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.9:c.3577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.4:p.Glu1193Lys",
        "hgvsWellDefined": "ENSP00000234420.4:p.Glu1193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 2557,
          "referenceAllele": "C",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000405808.5:c.169+2557C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385127.1:n.169+2557C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 2356,
          "referenceAllele": "C",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000434234.5:c.*124+2356C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402692.1:n.*124+2356C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3559,
          "referenceAllele": "G",
          "start": 3558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000445503.5:c.*2924G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405294.1:n.*2924G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3464,
          "referenceAllele": "G",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000538136.1:c.2671G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438580.1:p.Glu891Lys",
        "hgvsWellDefined": "ENSP00000438580.1:p.Glu891Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3339,
          "referenceAllele": "G",
          "start": 3338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.5:c.3187G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Glu1063Lys",
        "hgvsWellDefined": "ENSP00000446475.1:p.Glu1063Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3559,
          "referenceAllele": "G",
          "start": 3558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000614496.4:c.2671G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477844.1:p.Glu891Lys",
        "hgvsWellDefined": "ENSP00000477844.1:p.Glu891Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3729,
          "referenceAllele": "G",
          "start": 3728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000622629.4:c.481G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482078.1:p.Glu161Lys",
        "hgvsWellDefined": "ENSP00000482078.1:p.Glu161Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA195025",
      "coordinates": [
        {
          "allele": "A",
          "end": 3729,
          "referenceAllele": "G",
          "start": 3728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.2:c.3577G>A",
        "LRG_219t1:c.3577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Glu1193Lys",
        "hgvsWellDefined": "NP_000170.1:p.Glu1193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006241"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826628617",
      "coordinates": [
        {
          "allele": "A",
          "end": 3339,
          "referenceAllele": "G",
          "start": 3338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.1:c.3187G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Glu1063Lys",
        "hgvsWellDefined": "NP_001268421.1:p.Glu1063Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021654"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826633342",
      "coordinates": [
        {
          "allele": "A",
          "end": 3559,
          "referenceAllele": "G",
          "start": 3558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.1:c.2671G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Glu891Lys",
        "hgvsWellDefined": "NP_001268422.1:p.Glu891Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916012050",
      "coordinates": [
        {
          "allele": "A",
          "end": 3464,
          "referenceAllele": "G",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.1:c.2671G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Glu891Lys",
        "hgvsWellDefined": "NP_001268423.1:p.Glu891Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3375,
          "referenceAllele": "G",
          "start": 3374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_005264271.1:c.3280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264328.1:p.Glu1094Lys",
        "hgvsWellDefined": "XP_005264328.1:p.Glu1094Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3436,
          "referenceAllele": "G",
          "start": 3435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532798.1:c.3394G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531100.1:p.Glu1132Lys",
        "hgvsWellDefined": "XP_011531100.1:p.Glu1132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3511,
          "referenceAllele": "G",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532799.1:c.3280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531101.1:p.Glu1094Lys",
        "hgvsWellDefined": "XP_011531101.1:p.Glu1094Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3392,
          "referenceAllele": "G",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532800.1:c.3280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531102.1:p.Glu1094Lys",
        "hgvsWellDefined": "XP_011531102.1:p.Glu1094Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3666,
          "referenceAllele": "G",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452819.1:c.3577G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308587.1:p.Glu1193Lys",
        "hgvsWellDefined": "XP_024308587.1:p.Glu1193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3436,
          "referenceAllele": "G",
          "start": 3435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452820.1:c.3394G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308588.1:p.Glu1132Lys",
        "hgvsWellDefined": "XP_024308588.1:p.Glu1132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3511,
          "referenceAllele": "G",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452821.1:c.3280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308589.1:p.Glu1094Lys",
        "hgvsWellDefined": "XP_024308589.1:p.Glu1094Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3463,
          "referenceAllele": "G",
          "start": 3462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452822.1:c.2671G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308590.1:p.Glu891Lys",
        "hgvsWellDefined": "XP_024308590.1:p.Glu891Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA195025",
      "coordinates": [
        {
          "allele": "A",
          "end": 3666,
          "referenceAllele": "G",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.3:c.3577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Glu1193Lys",
        "hgvsWellDefined": "NP_000170.1:p.Glu1193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.3577G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.3577G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Glu1193Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Glu1193Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826628617",
      "coordinates": [
        {
          "allele": "A",
          "end": 3276,
          "referenceAllele": "G",
          "start": 3275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.2:c.3187G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Glu1063Lys",
        "hgvsWellDefined": "NP_001268421.1:p.Glu1063Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826633342",
      "coordinates": [
        {
          "allele": "A",
          "end": 3496,
          "referenceAllele": "G",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.2:c.2671G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Glu891Lys",
        "hgvsWellDefined": "NP_001268422.1:p.Glu891Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916012050",
      "coordinates": [
        {
          "allele": "A",
          "end": 3464,
          "referenceAllele": "G",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.2:c.2671G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Glu891Lys",
        "hgvsWellDefined": "NP_001268423.1:p.Glu891Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715704"
    }
  ],
  "type": "nucleotide"
}