{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA043685",
  "communityStandardTitle": [
    "NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=240119[alleleid]",
        "alleleId": 240119,
        "preferredName": "NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/237886",
        "RCV": [
          "RCV000227437",
          "RCV000479471",
          "RCV000570329",
          "RCV002288911",
          "RCV003998786"
        ],
        "variationId": 237886
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-6026942-G-A",
        "id": "7-6026942-G-A",
        "variant": "7:6026942 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.6026942G>A?assembly=hg19",
        "id": "chr7:g.6026942G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.5987311G>A?assembly=hg38",
        "id": "chr7:g.5987311G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1805323",
        "rs": 1805323
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-6026942-G-A?dataset=gnomad_r2_1",
        "id": "7-6026942-G-A",
        "variant": "7:6026942 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-5987311-G-A?dataset=gnomad_r3",
        "id": "7-5987311-G-A",
        "variant": "7:5987311 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-5987311-G-A?dataset=gnomad_r4",
        "id": "7-5987311-G-A",
        "variant": "7:5987311 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 5987311,
          "referenceAllele": "G",
          "start": 5987310
        }
      ],
      "hgvs": [
        "NC_000007.14:g.5987311G>A",
        "CM000669.2:g.5987311G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 6026942,
          "referenceAllele": "G",
          "start": 6026941
        }
      ],
      "hgvs": [
        "NC_000007.13:g.6026942G>A",
        "CM000669.1:g.6026942G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 5993468,
          "referenceAllele": "G",
          "start": 5993467
        }
      ],
      "hgvs": [
        "NC_000007.12:g.5993468G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26796,
          "referenceAllele": "C",
          "start": 26795
        }
      ],
      "hgvs": [
        "NG_008466.1:g.26796C>T",
        "LRG_161:g.26796C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "C",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699814.2:c.*850C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514615.2:n.*850C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1519,
          "referenceAllele": "C",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699840.2:c.1451C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514638.2:p.Thr484Met",
        "hgvsWellDefined": "ENSP00000514638.2:p.Thr484Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699930.2:c.1346C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514695.2:p.Thr449Met",
        "hgvsWellDefined": "ENSP00000514695.2:p.Thr449Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1454,
          "referenceAllele": "C",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000406569.8:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514464.1:p.Thr485Met",
        "hgvsWellDefined": "ENSP00000514464.1:p.Thr485Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1374,
          "referenceAllele": "C",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000644110.2:c.*1048C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496392.2:n.*1048C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "referenceAllele": "C",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699752.1:c.1298C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514561.1:p.Thr433Met",
        "hgvsWellDefined": "ENSP00000514561.1:p.Thr433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1461,
          "referenceAllele": "C",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699753.1:c.*875C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514562.1:n.*875C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699754.1:c.1256C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514563.1:p.Thr419Met",
        "hgvsWellDefined": "ENSP00000514563.1:p.Thr419Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1454,
          "referenceAllele": "C",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699755.1:c.*853C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514564.1:n.*853C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699756.1:c.*1041C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514565.1:n.*1041C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1178,
          "referenceAllele": "C",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699757.1:c.*711C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514566.1:n.*711C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1232,
          "referenceAllele": "C",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699758.1:c.*711C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514567.1:n.*711C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2308,
          "referenceAllele": "C",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699759.1:n.2308C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699760.1:c.1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514568.1:p.Thr379Met",
        "hgvsWellDefined": "ENSP00000514568.1:p.Thr379Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699761.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514569.1:p.Thr350Met",
        "hgvsWellDefined": "ENSP00000514569.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1361,
          "referenceAllele": "C",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699762.1:c.881C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514570.1:p.Thr294Met",
        "hgvsWellDefined": "ENSP00000514570.1:p.Thr294Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1651,
          "referenceAllele": "C",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699763.1:c.*544C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514571.1:n.*544C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699764.1:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514572.1:p.Thr485Met",
        "hgvsWellDefined": "ENSP00000514572.1:p.Thr485Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1311,
          "referenceAllele": "C",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699765.1:c.*550C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514573.1:n.*550C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1557,
          "referenceAllele": "C",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699766.1:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514574.1:p.Thr485Met",
        "hgvsWellDefined": "ENSP00000514574.1:p.Thr485Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1557,
          "referenceAllele": "C",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699767.1:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514575.1:p.Thr485Met",
        "hgvsWellDefined": "ENSP00000514575.1:p.Thr485Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910640"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1557,
          "referenceAllele": "C",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699768.1:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514576.1:p.Thr485Met",
        "hgvsWellDefined": "ENSP00000514576.1:p.Thr485Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1654,
          "referenceAllele": "C",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699811.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514614.1:p.Thr350Met",
        "hgvsWellDefined": "ENSP00000514614.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1567,
          "referenceAllele": "C",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699813.1:n.1567C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1077,
          "referenceAllele": "C",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699814.1:c.1077C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1622,
          "referenceAllele": "C",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699815.1:c.*985C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514616.1:n.*985C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1821,
          "referenceAllele": "C",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699816.1:c.*344C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514617.1:n.*344C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699817.1:c.*1048C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514618.1:n.*1048C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699818.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514619.1:p.Thr350Met",
        "hgvsWellDefined": "ENSP00000514619.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1525,
          "referenceAllele": "C",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699819.1:c.*611C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514620.1:n.*611C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "endIntronDirection": "+",
          "endIntronOffset": 2489,
          "referenceAllele": "C",
          "start": 1255,
          "startIntronDirection": "+",
          "startIntronOffset": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699820.1:c.1144+2489C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514621.1:n.1144+2489C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699821.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514622.1:p.Thr350Met",
        "hgvsWellDefined": "ENSP00000514622.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1537,
          "referenceAllele": "C",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699822.1:c.*906C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514623.1:n.*906C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699823.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514624.1:p.Thr350Met",
        "hgvsWellDefined": "ENSP00000514624.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1626,
          "referenceAllele": "C",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699824.1:c.*957C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514625.1:n.*957C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699825.1:c.893C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514626.1:p.Thr298Met",
        "hgvsWellDefined": "ENSP00000514626.1:p.Thr298Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699826.1:c.*853C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514627.1:n.*853C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1366,
          "referenceAllele": "C",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699827.1:c.1286C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514628.1:p.Thr429Met",
        "hgvsWellDefined": "ENSP00000514628.1:p.Thr429Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1681,
          "referenceAllele": "C",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699828.1:c.*544C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514629.1:n.*544C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3226,
          "referenceAllele": "C",
          "start": 3225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699833.1:n.3226C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699837.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514635.1:p.Thr350Met",
        "hgvsWellDefined": "ENSP00000514635.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1650,
          "referenceAllele": "C",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699838.1:c.*1354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514636.1:n.*1354C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1705,
          "referenceAllele": "C",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699839.1:c.1640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514637.1:p.Thr547Met",
        "hgvsWellDefined": "ENSP00000514637.1:p.Thr547Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1449,
          "referenceAllele": "C",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699916.1:c.*711C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514684.1:n.*711C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1607,
          "referenceAllele": "C",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699917.1:c.*903C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514685.1:n.*903C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1659,
          "referenceAllele": "C",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699918.1:c.*955C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514686.1:n.*955C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699919.1:c.*1041C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514687.1:n.*1041C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1794,
          "referenceAllele": "C",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699920.1:c.*1090C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514688.1:n.*1090C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "endIntronDirection": "-",
          "endIntronOffset": 4319,
          "referenceAllele": "C",
          "start": 1099,
          "startIntronDirection": "-",
          "startIntronOffset": 4320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699928.1:c.989-4320C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514693.1:n.989-4320C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699929.1:c.*755C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514694.1:n.*755C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699930.1:c.1346C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514695.1:p.Thr449Met",
        "hgvsWellDefined": "ENSP00000514695.1:p.Thr449Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2882,
          "referenceAllele": "C",
          "start": 2881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699931.1:n.2882C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1434,
          "referenceAllele": "C",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699951.1:c.*550C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514706.1:n.*550C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "endIntronDirection": "+",
          "endIntronOffset": 10015,
          "referenceAllele": "C",
          "start": 883,
          "startIntronDirection": "+",
          "startIntronOffset": 10014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699952.1:c.803+10015C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514707.1:n.803+10015C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1436,
          "referenceAllele": "C",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699953.1:c.*561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514708.1:n.*561C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699954.1:c.*755C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514709.1:n.*755C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "referenceAllele": "C",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000265849.12:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265849.7:p.Thr485Met",
        "hgvsWellDefined": "ENSP00000265849.7:p.Thr485Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742894",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265849.12:c.1454C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000535.7:c.1454C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265849.7:p.Thr485Met"
          },
          "RefSeq": {
            "hgvs": "NP_000526.2:p.Thr485Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1392,
          "referenceAllele": "C",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000642292.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495524.1:p.Thr350Met",
        "hgvsWellDefined": "ENSP00000495524.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000642456.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493814.1:p.Thr350Met",
        "hgvsWellDefined": "ENSP00000493814.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000643595.1:c.*853C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494497.1:n.*853C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "C",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000644110.1:c.1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496392.1:p.Thr379Met",
        "hgvsWellDefined": "ENSP00000496392.1:p.Thr379Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1560,
          "referenceAllele": "C",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000265849.11:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265849.7:p.Thr485Met",
        "hgvsWellDefined": "ENSP00000265849.7:p.Thr485Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "endIntronDirection": "-",
          "endIntronOffset": 4319,
          "referenceAllele": "C",
          "start": 803,
          "startIntronDirection": "-",
          "startIntronOffset": 4320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000382321.5:c.804-4320C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371758.4:n.804-4320C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1454,
          "referenceAllele": "C",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000406569.7:n.1454C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS280678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1438,
          "referenceAllele": "C",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000441476.6:c.1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392843.2:p.Thr379Met",
        "hgvsWellDefined": "ENSP00000392843.2:p.Thr379Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62,
          "endIntronDirection": "-",
          "endIntronOffset": 4405,
          "referenceAllele": "C",
          "start": 62,
          "startIntronDirection": "-",
          "startIntronOffset": 4406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000469652.1:n.63-4406C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_000535.5:c.1454C>T",
        "LRG_161t1:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000526.1:p.Thr485Met",
        "hgvsWellDefined": "NP_000526.1:p.Thr485Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1536,
          "referenceAllele": "C",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NR_003085.2:n.1536C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1491,
          "referenceAllele": "C",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_006715742.2:c.1448C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715805.1:p.Thr483Met",
        "hgvsWellDefined": "XP_006715805.1:p.Thr483Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_006715744.2:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715807.1:p.Thr174Met",
        "hgvsWellDefined": "XP_006715807.1:p.Thr174Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "referenceAllele": "C",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_011515427.1:c.1499C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513729.1:p.Thr500Met",
        "hgvsWellDefined": "XP_011513729.1:p.Thr500Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_011515428.1:c.1343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513730.1:p.Thr448Met",
        "hgvsWellDefined": "XP_011513730.1:p.Thr448Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1438,
          "referenceAllele": "C",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_011515429.1:c.1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513731.1:p.Thr379Met",
        "hgvsWellDefined": "XP_011513731.1:p.Thr379Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1412,
          "referenceAllele": "C",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_011515430.1:c.1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513732.1:p.Thr379Met",
        "hgvsWellDefined": "XP_011513732.1:p.Thr379Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891864643",
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_000535.6:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000526.2:p.Thr485Met",
        "hgvsWellDefined": "NP_000526.2:p.Thr485Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827099894",
      "coordinates": [
        {
          "allele": "T",
          "end": 1536,
          "referenceAllele": "C",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322003.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308932.1:p.Thr350Met",
        "hgvsWellDefined": "NP_001308932.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827106508",
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "C",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322004.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308933.1:p.Thr350Met",
        "hgvsWellDefined": "NP_001308933.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827112427",
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "referenceAllele": "C",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322005.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308934.1:p.Thr350Met",
        "hgvsWellDefined": "NP_001308934.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827115607",
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322006.1:c.1298C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308935.1:p.Thr433Met",
        "hgvsWellDefined": "NP_001308935.1:p.Thr433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827118530",
      "coordinates": [
        {
          "allele": "T",
          "end": 1438,
          "referenceAllele": "C",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322007.1:c.1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308936.1:p.Thr379Met",
        "hgvsWellDefined": "NP_001308936.1:p.Thr379Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827123072",
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322008.1:c.1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308937.1:p.Thr379Met",
        "hgvsWellDefined": "NP_001308937.1:p.Thr379Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827124215",
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "C",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322009.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308938.1:p.Thr350Met",
        "hgvsWellDefined": "NP_001308938.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514681"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827126853",
      "coordinates": [
        {
          "allele": "T",
          "end": 1245,
          "referenceAllele": "C",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322010.1:c.893C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308939.1:p.Thr298Met",
        "hgvsWellDefined": "NP_001308939.1:p.Thr298Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827128955",
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322011.1:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308940.1:p.Thr174Met",
        "hgvsWellDefined": "NP_001308940.1:p.Thr174Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827130864",
      "coordinates": [
        {
          "allele": "T",
          "end": 1487,
          "referenceAllele": "C",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322012.1:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308941.1:p.Thr174Met",
        "hgvsWellDefined": "NP_001308941.1:p.Thr174Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827133293",
      "coordinates": [
        {
          "allele": "T",
          "end": 1368,
          "referenceAllele": "C",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322013.1:c.881C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308942.1:p.Thr294Met",
        "hgvsWellDefined": "NP_001308942.1:p.Thr294Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916025841",
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322014.1:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308943.1:p.Thr485Met",
        "hgvsWellDefined": "NP_001308943.1:p.Thr485Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827138082",
      "coordinates": [
        {
          "allele": "T",
          "end": 1711,
          "referenceAllele": "C",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322015.1:c.1145C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308944.1:p.Thr382Met",
        "hgvsWellDefined": "NP_001308944.1:p.Thr382Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NR_136154.1:n.1541C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_006715744.4:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715807.1:p.Thr174Met",
        "hgvsWellDefined": "XP_006715807.1:p.Thr174Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1366,
          "referenceAllele": "C",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_017012342.2:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867831.1:p.Thr174Met",
        "hgvsWellDefined": "XP_016867831.1:p.Thr174Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_024446800.1:c.893C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302568.1:p.Thr298Met",
        "hgvsWellDefined": "XP_024302568.1:p.Thr298Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891864643",
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "referenceAllele": "C",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_000535.7:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000526.2:p.Thr485Met",
        "hgvsWellDefined": "NP_000526.2:p.Thr485Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662478",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265849.12:c.1454C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000535.7:c.1454C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265849.7:p.Thr485Met"
          },
          "RefSeq": {
            "hgvs": "NP_000526.2:p.Thr485Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827099894",
      "coordinates": [
        {
          "allele": "T",
          "end": 1479,
          "referenceAllele": "C",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322003.2:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308932.1:p.Thr350Met",
        "hgvsWellDefined": "NP_001308932.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827106508",
      "coordinates": [
        {
          "allele": "T",
          "end": 1344,
          "referenceAllele": "C",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322004.2:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308933.1:p.Thr350Met",
        "hgvsWellDefined": "NP_001308933.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827112427",
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322005.2:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308934.1:p.Thr350Met",
        "hgvsWellDefined": "NP_001308934.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827115607",
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "referenceAllele": "C",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322006.2:c.1298C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308935.1:p.Thr433Met",
        "hgvsWellDefined": "NP_001308935.1:p.Thr433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827123072",
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "C",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322008.2:c.1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308937.1:p.Thr379Met",
        "hgvsWellDefined": "NP_001308937.1:p.Thr379Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827124215",
      "coordinates": [
        {
          "allele": "T",
          "end": 1669,
          "referenceAllele": "C",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322009.2:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308938.1:p.Thr350Met",
        "hgvsWellDefined": "NP_001308938.1:p.Thr350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827126853",
      "coordinates": [
        {
          "allele": "T",
          "end": 1188,
          "referenceAllele": "C",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322010.2:c.893C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308939.1:p.Thr298Met",
        "hgvsWellDefined": "NP_001308939.1:p.Thr298Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827128955",
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "referenceAllele": "C",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322011.2:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308940.1:p.Thr174Met",
        "hgvsWellDefined": "NP_001308940.1:p.Thr174Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827130864",
      "coordinates": [
        {
          "allele": "T",
          "end": 1430,
          "referenceAllele": "C",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322012.2:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308941.1:p.Thr174Met",
        "hgvsWellDefined": "NP_001308941.1:p.Thr174Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827133293",
      "coordinates": [
        {
          "allele": "T",
          "end": 1311,
          "referenceAllele": "C",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322013.2:c.881C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308942.1:p.Thr294Met",
        "hgvsWellDefined": "NP_001308942.1:p.Thr294Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685621"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916025841",
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "referenceAllele": "C",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322014.2:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308943.1:p.Thr485Met",
        "hgvsWellDefined": "NP_001308943.1:p.Thr485Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827138082",
      "coordinates": [
        {
          "allele": "T",
          "end": 1654,
          "referenceAllele": "C",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322015.2:c.1145C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308944.1:p.Thr382Met",
        "hgvsWellDefined": "NP_001308944.1:p.Thr382Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827118530",
      "coordinates": [
        {
          "allele": "T",
          "end": 1381,
          "referenceAllele": "C",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322007.2:c.1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308936.1:p.Thr379Met",
        "hgvsWellDefined": "NP_001308936.1:p.Thr379Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718053"
    }
  ],
  "type": "nucleotide"
}