{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2496051820",
  "communityStandardTitle": [
    "NM_000179.3(MSH6):c.3221T= (p.Met1074=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267608090",
        "rs": 267608090
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060502927",
        "rs": 1060502927
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 47803468,
          "referenceAllele": "T",
          "start": 47803467
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47803468T=",
        "CM000664.2:g.47803468T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 48030607,
          "referenceAllele": "T",
          "start": 48030606
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48030607T=",
        "CM000664.1:g.48030607T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 47884111,
          "referenceAllele": "T",
          "start": 47884110
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47884111T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25322,
          "referenceAllele": "T",
          "start": 25321
        }
      ],
      "hgvs": [
        "NG_007111.1:g.25322T=",
        "LRG_219:g.25322T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3019,
          "referenceAllele": "T",
          "start": 3018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000411819.2:c.2924T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406248.2:p.Met975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3151,
          "referenceAllele": "T",
          "start": 3150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000420813.6:c.2924T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390382.2:p.Met975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3155,
          "referenceAllele": "T",
          "start": 3154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000455383.6:c.2924T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397484.2:p.Met975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3256,
          "endIntronDirection": "-",
          "endIntronOffset": 2149,
          "referenceAllele": "T",
          "start": 3256,
          "startIntronDirection": "-",
          "startIntronOffset": 2150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.2:c.3173-2150T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.2:n.3173-2150T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3305,
          "referenceAllele": "T",
          "start": 3304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000699999.1:n.3305T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1738,
          "referenceAllele": "T",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700000.1:c.1655T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514749.1:p.Met552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3299,
          "referenceAllele": "T",
          "start": 3298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700002.1:c.3227T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514750.1:p.Met1076="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "T",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700003.1:c.676T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514751.1:p.Cys226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2329,
          "endIntronDirection": "-",
          "endIntronOffset": 2149,
          "referenceAllele": "T",
          "start": 2329,
          "startIntronDirection": "-",
          "startIntronOffset": 2150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.1:c.2330-2150T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.1:n.2330-2150T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2072,
          "referenceAllele": "T",
          "start": 2071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700005.1:n.2072T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2069,
          "referenceAllele": "T",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700006.1:n.2069T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1226,
          "referenceAllele": "T",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700007.1:n.1226T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "referenceAllele": "T",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700008.1:n.800T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 799,
          "referenceAllele": "T",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700009.1:n.799T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "T",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700010.1:n.630T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 701,
          "referenceAllele": "T",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700011.1:n.701T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3310,
          "referenceAllele": "T",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.11:c.3221T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.5:p.Met1074="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.3221T="
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.3221T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Met1074="
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Met1074="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2882,
          "referenceAllele": "T",
          "start": 2881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.6:c.2831T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Met944="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3604,
          "referenceAllele": "T",
          "start": 3603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000652107.1:c.2924T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498629.1:p.Met975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3042,
          "referenceAllele": "T",
          "start": 3041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673637.1:c.2924T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501310.1:p.Met975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3373,
          "referenceAllele": "T",
          "start": 3372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.9:c.3221T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.4:p.Met1074="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 4727,
          "referenceAllele": "A",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 4726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000405808.5:c.169+4727A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385127.1:n.169+4727A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 4526,
          "referenceAllele": "A",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 4525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000434234.5:c.*124+4526A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402692.1:n.*124+4526A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3203,
          "referenceAllele": "T",
          "start": 3202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000445503.5:c.*2568T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405294.1:n.*2568T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3108,
          "referenceAllele": "T",
          "start": 3107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000538136.1:c.2315T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438580.1:p.Met772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2983,
          "referenceAllele": "T",
          "start": 2982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.5:c.2831T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Met944="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3203,
          "referenceAllele": "T",
          "start": 3202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000614496.4:c.2315T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477844.1:p.Met772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3373,
          "referenceAllele": "T",
          "start": 3372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000622629.4:c.125T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482078.1:p.Met42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066610336",
      "coordinates": [
        {
          "allele": "T",
          "end": 3373,
          "referenceAllele": "T",
          "start": 3372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.2:c.3221T=",
        "LRG_219t1:c.3221T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Met1074="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2983,
          "referenceAllele": "T",
          "start": 2982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.1:c.2831T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Met944="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3203,
          "referenceAllele": "T",
          "start": 3202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.1:c.2315T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Met772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3108,
          "referenceAllele": "T",
          "start": 3107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.1:c.2315T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Met772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021656"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3019,
          "referenceAllele": "T",
          "start": 3018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_005264271.1:c.2924T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264328.1:p.Met975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3080,
          "referenceAllele": "T",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532798.1:c.3038T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531100.1:p.Met1013="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3155,
          "referenceAllele": "T",
          "start": 3154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532799.1:c.2924T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531101.1:p.Met975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3036,
          "referenceAllele": "T",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532800.1:c.2924T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531102.1:p.Met975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3310,
          "referenceAllele": "T",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452819.1:c.3221T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308587.1:p.Met1074="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3080,
          "referenceAllele": "T",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452820.1:c.3038T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308588.1:p.Met1013="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3155,
          "referenceAllele": "T",
          "start": 3154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452821.1:c.2924T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308589.1:p.Met975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3107,
          "referenceAllele": "T",
          "start": 3106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452822.1:c.2315T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308590.1:p.Met772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066610336",
      "coordinates": [
        {
          "allele": "T",
          "end": 3310,
          "referenceAllele": "T",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.3:c.3221T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Met1074="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.3221T="
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.3221T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Met1074="
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Met1074="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2920,
          "referenceAllele": "T",
          "start": 2919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.2:c.2831T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Met944="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3140,
          "referenceAllele": "T",
          "start": 3139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.2:c.2315T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Met772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3108,
          "referenceAllele": "T",
          "start": 3107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.2:c.2315T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Met772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715704"
    }
  ],
  "type": "nucleotide"
}