{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA009671",
  "communityStandardTitle": [
    "NM_000535.7(PMS2):c.1437C>G (p.His479Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50140[alleleid]",
        "alleleId": 50140,
        "preferredName": "NM_000535.7(PMS2):c.1437C>G (p.His479Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41701",
        "RCV": [
          "RCV000034615",
          "RCV000076809",
          "RCV000121844",
          "RCV000162366",
          "RCV000625386",
          "RCV001081746",
          "RCV001356193",
          "RCV003149610",
          "RCV003153324"
        ],
        "variationId": 41701
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-6026959-G-C",
        "id": "7-6026959-G-C",
        "variant": "7:6026959 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.6026959G>C?assembly=hg19",
        "id": "chr7:g.6026959G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.5987328G>C?assembly=hg38",
        "id": "chr7:g.5987328G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63750685",
        "rs": 63750685
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-6026959-G-C?dataset=gnomad_r2_1",
        "id": "7-6026959-G-C",
        "variant": "7:6026959 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-5987328-G-C?dataset=gnomad_r3",
        "id": "7-5987328-G-C",
        "variant": "7:5987328 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-5987328-G-C?dataset=gnomad_r4",
        "id": "7-5987328-G-C",
        "variant": "7:5987328 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 5987328,
          "referenceAllele": "G",
          "start": 5987327
        }
      ],
      "hgvs": [
        "NC_000007.14:g.5987328G>C",
        "CM000669.2:g.5987328G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 6026959,
          "referenceAllele": "G",
          "start": 6026958
        }
      ],
      "hgvs": [
        "NC_000007.13:g.6026959G>C",
        "CM000669.1:g.6026959G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 5993485,
          "referenceAllele": "G",
          "start": 5993484
        }
      ],
      "hgvs": [
        "NC_000007.12:g.5993485G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26779,
          "referenceAllele": "C",
          "start": 26778
        }
      ],
      "hgvs": [
        "NG_008466.1:g.26779C>G",
        "LRG_161:g.26779C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699814.2:c.*833C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514615.2:n.*833C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1502,
          "referenceAllele": "C",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699840.2:c.1434C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514638.2:p.His478Gln",
        "hgvsWellDefined": "ENSP00000514638.2:p.His478Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699930.2:c.1329C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514695.2:p.His443Gln",
        "hgvsWellDefined": "ENSP00000514695.2:p.His443Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1437,
          "referenceAllele": "C",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000406569.8:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514464.1:p.His479Gln",
        "hgvsWellDefined": "ENSP00000514464.1:p.His479Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904664"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1357,
          "referenceAllele": "C",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000644110.2:c.*1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496392.2:n.*1031C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1311,
          "referenceAllele": "C",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699752.1:c.1281C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514561.1:p.His427Gln",
        "hgvsWellDefined": "ENSP00000514561.1:p.His427Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "C",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699753.1:c.*858C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514562.1:n.*858C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1284,
          "referenceAllele": "C",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699754.1:c.1239C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514563.1:p.His413Gln",
        "hgvsWellDefined": "ENSP00000514563.1:p.His413Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910627"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1437,
          "referenceAllele": "C",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699755.1:c.*836C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514564.1:n.*836C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1438,
          "referenceAllele": "C",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699756.1:c.*1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514565.1:n.*1024C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1161,
          "referenceAllele": "C",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699757.1:c.*694C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514566.1:n.*694C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910630"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1215,
          "referenceAllele": "C",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699758.1:c.*694C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514567.1:n.*694C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2291,
          "referenceAllele": "C",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699759.1:n.2291C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910632"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1271,
          "referenceAllele": "C",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699760.1:c.1119C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514568.1:p.His373Gln",
        "hgvsWellDefined": "ENSP00000514568.1:p.His373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910633"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1457,
          "referenceAllele": "C",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699761.1:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514569.1:p.His344Gln",
        "hgvsWellDefined": "ENSP00000514569.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1344,
          "referenceAllele": "C",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699762.1:c.864C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514570.1:p.His288Gln",
        "hgvsWellDefined": "ENSP00000514570.1:p.His288Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1634,
          "referenceAllele": "C",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699763.1:c.*527C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514571.1:n.*527C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1491,
          "referenceAllele": "C",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699764.1:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514572.1:p.His479Gln",
        "hgvsWellDefined": "ENSP00000514572.1:p.His479Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910637"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699765.1:c.*533C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514573.1:n.*533C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699766.1:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514574.1:p.His479Gln",
        "hgvsWellDefined": "ENSP00000514574.1:p.His479Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699767.1:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514575.1:p.His479Gln",
        "hgvsWellDefined": "ENSP00000514575.1:p.His479Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910640"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699768.1:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514576.1:p.His479Gln",
        "hgvsWellDefined": "ENSP00000514576.1:p.His479Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699811.1:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514614.1:p.His344Gln",
        "hgvsWellDefined": "ENSP00000514614.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1550,
          "referenceAllele": "C",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699813.1:n.1550C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699814.1:c.1060C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699815.1:c.*968C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514616.1:n.*968C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1804,
          "referenceAllele": "C",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699816.1:c.*327C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514617.1:n.*327C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1277,
          "referenceAllele": "C",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699817.1:c.*1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514618.1:n.*1031C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1657,
          "referenceAllele": "C",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699818.1:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514619.1:p.His344Gln",
        "hgvsWellDefined": "ENSP00000514619.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699819.1:c.*594C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514620.1:n.*594C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1255,
          "endIntronDirection": "+",
          "endIntronOffset": 2472,
          "referenceAllele": "C",
          "start": 1255,
          "startIntronDirection": "+",
          "startIntronOffset": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699820.1:c.1144+2472C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514621.1:n.1144+2472C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699821.1:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514622.1:p.His344Gln",
        "hgvsWellDefined": "ENSP00000514622.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699822.1:c.*889C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514623.1:n.*889C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699823.1:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514624.1:p.His344Gln",
        "hgvsWellDefined": "ENSP00000514624.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699824.1:c.*940C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514625.1:n.*940C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910696"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699825.1:c.876C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514626.1:p.His292Gln",
        "hgvsWellDefined": "ENSP00000514626.1:p.His292Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910697"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1313,
          "referenceAllele": "C",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699826.1:c.*836C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514627.1:n.*836C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699827.1:c.1269C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514628.1:p.His423Gln",
        "hgvsWellDefined": "ENSP00000514628.1:p.His423Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1664,
          "referenceAllele": "C",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699828.1:c.*527C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514629.1:n.*527C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3209,
          "referenceAllele": "C",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699833.1:n.3209C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1374,
          "referenceAllele": "C",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699837.1:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514635.1:p.His344Gln",
        "hgvsWellDefined": "ENSP00000514635.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699838.1:c.*1337C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514636.1:n.*1337C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699839.1:c.1623C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514637.1:p.His541Gln",
        "hgvsWellDefined": "ENSP00000514637.1:p.His541Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1432,
          "referenceAllele": "C",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699916.1:c.*694C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514684.1:n.*694C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910788"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699917.1:c.*886C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514685.1:n.*886C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699918.1:c.*938C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514686.1:n.*938C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699919.1:c.*1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514687.1:n.*1024C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1777,
          "referenceAllele": "C",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699920.1:c.*1073C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514688.1:n.*1073C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910792"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1099,
          "endIntronDirection": "-",
          "endIntronOffset": 4336,
          "referenceAllele": "C",
          "start": 1099,
          "startIntronDirection": "-",
          "startIntronOffset": 4337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699928.1:c.989-4337C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514693.1:n.989-4337C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699929.1:c.*738C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514694.1:n.*738C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699930.1:c.1329C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514695.1:p.His443Gln",
        "hgvsWellDefined": "ENSP00000514695.1:p.His443Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910802"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2865,
          "referenceAllele": "C",
          "start": 2864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699931.1:n.2865C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910803"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699951.1:c.*533C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514706.1:n.*533C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 883,
          "endIntronDirection": "+",
          "endIntronOffset": 9998,
          "referenceAllele": "C",
          "start": 883,
          "startIntronDirection": "+",
          "startIntronOffset": 9997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699952.1:c.803+9998C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514707.1:n.803+9998C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910823"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1419,
          "referenceAllele": "C",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699953.1:c.*544C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514708.1:n.*544C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000699954.1:c.*738C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514709.1:n.*738C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1467,
          "referenceAllele": "C",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000265849.12:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265849.7:p.His479Gln",
        "hgvsWellDefined": "ENSP00000265849.7:p.His479Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742894",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265849.12:c.1437C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000535.7:c.1437C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265849.7:p.His479Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000526.2:p.His479Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000642292.1:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495524.1:p.His344Gln",
        "hgvsWellDefined": "ENSP00000495524.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766664"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1488,
          "referenceAllele": "C",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000642456.1:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493814.1:p.His344Gln",
        "hgvsWellDefined": "ENSP00000493814.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766755"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1410,
          "referenceAllele": "C",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000643595.1:c.*836C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494497.1:n.*836C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000644110.1:c.1119C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496392.1:p.His373Gln",
        "hgvsWellDefined": "ENSP00000496392.1:p.His373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1543,
          "referenceAllele": "C",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000265849.11:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265849.7:p.His479Gln",
        "hgvsWellDefined": "ENSP00000265849.7:p.His479Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "endIntronDirection": "-",
          "endIntronOffset": 4336,
          "referenceAllele": "C",
          "start": 803,
          "startIntronDirection": "-",
          "startIntronOffset": 4337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000382321.5:c.804-4337C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371758.4:n.804-4337C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1437,
          "referenceAllele": "C",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000406569.7:n.1437C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS280678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000441476.6:c.1119C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392843.2:p.His373Gln",
        "hgvsWellDefined": "ENSP00000392843.2:p.His373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62,
          "endIntronDirection": "-",
          "endIntronOffset": 4422,
          "referenceAllele": "C",
          "start": 62,
          "startIntronDirection": "-",
          "startIntronOffset": 4423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "ENST00000469652.1:n.63-4423C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA161577",
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_000535.5:c.1437C>G",
        "LRG_161t1:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000526.1:p.His479Gln",
        "hgvsWellDefined": "NP_000526.1:p.His479Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1519,
          "referenceAllele": "C",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NR_003085.2:n.1519C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_006715742.2:c.1431C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715805.1:p.His477Gln",
        "hgvsWellDefined": "XP_006715805.1:p.His477Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_006715744.2:c.504C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715807.1:p.His168Gln",
        "hgvsWellDefined": "XP_006715807.1:p.His168Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1497,
          "referenceAllele": "C",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_011515427.1:c.1482C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513729.1:p.His494Gln",
        "hgvsWellDefined": "XP_011513729.1:p.His494Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "C",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_011515428.1:c.1326C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513730.1:p.His442Gln",
        "hgvsWellDefined": "XP_011513730.1:p.His442Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_011515429.1:c.1119C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513731.1:p.His373Gln",
        "hgvsWellDefined": "XP_011513731.1:p.His373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "referenceAllele": "C",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_011515430.1:c.1119C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513732.1:p.His373Gln",
        "hgvsWellDefined": "XP_011513732.1:p.His373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891864635",
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_000535.6:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000526.2:p.His479Gln",
        "hgvsWellDefined": "NP_000526.2:p.His479Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827099834",
      "coordinates": [
        {
          "allele": "G",
          "end": 1519,
          "referenceAllele": "C",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322003.1:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308932.1:p.His344Gln",
        "hgvsWellDefined": "NP_001308932.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827106461",
      "coordinates": [
        {
          "allele": "G",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322004.1:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308933.1:p.His344Gln",
        "hgvsWellDefined": "NP_001308933.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827112407",
      "coordinates": [
        {
          "allele": "G",
          "end": 1636,
          "referenceAllele": "C",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322005.1:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308934.1:p.His344Gln",
        "hgvsWellDefined": "NP_001308934.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827115587",
      "coordinates": [
        {
          "allele": "G",
          "end": 1368,
          "referenceAllele": "C",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322006.1:c.1281C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308935.1:p.His427Gln",
        "hgvsWellDefined": "NP_001308935.1:p.His427Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827118509",
      "coordinates": [
        {
          "allele": "G",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322007.1:c.1119C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308936.1:p.His373Gln",
        "hgvsWellDefined": "NP_001308936.1:p.His373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827123033",
      "coordinates": [
        {
          "allele": "G",
          "end": 1281,
          "referenceAllele": "C",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322008.1:c.1119C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308937.1:p.His373Gln",
        "hgvsWellDefined": "NP_001308937.1:p.His373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827124181",
      "coordinates": [
        {
          "allele": "G",
          "end": 1631,
          "referenceAllele": "C",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322009.1:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308938.1:p.His344Gln",
        "hgvsWellDefined": "NP_001308938.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514681"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827126830",
      "coordinates": [
        {
          "allele": "G",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322010.1:c.876C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308939.1:p.His292Gln",
        "hgvsWellDefined": "NP_001308939.1:p.His292Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827128935",
      "coordinates": [
        {
          "allele": "G",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322011.1:c.504C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308940.1:p.His168Gln",
        "hgvsWellDefined": "NP_001308940.1:p.His168Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827130845",
      "coordinates": [
        {
          "allele": "G",
          "end": 1470,
          "referenceAllele": "C",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322012.1:c.504C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308941.1:p.His168Gln",
        "hgvsWellDefined": "NP_001308941.1:p.His168Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827133272",
      "coordinates": [
        {
          "allele": "G",
          "end": 1351,
          "referenceAllele": "C",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322013.1:c.864C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308942.1:p.His288Gln",
        "hgvsWellDefined": "NP_001308942.1:p.His288Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916025830",
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322014.1:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308943.1:p.His479Gln",
        "hgvsWellDefined": "NP_001308943.1:p.His479Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827138062",
      "coordinates": [
        {
          "allele": "G",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322015.1:c.1128C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308944.1:p.His376Gln",
        "hgvsWellDefined": "NP_001308944.1:p.His376Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NR_136154.1:n.1524C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_006715744.4:c.504C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715807.1:p.His168Gln",
        "hgvsWellDefined": "XP_006715807.1:p.His168Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_017012342.2:c.504C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867831.1:p.His168Gln",
        "hgvsWellDefined": "XP_016867831.1:p.His168Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1353,
          "referenceAllele": "C",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "XM_024446800.1:c.876C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302568.1:p.His292Gln",
        "hgvsWellDefined": "XP_024302568.1:p.His292Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891864635",
      "coordinates": [
        {
          "allele": "G",
          "end": 1467,
          "referenceAllele": "C",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_000535.7:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000526.2:p.His479Gln",
        "hgvsWellDefined": "NP_000526.2:p.His479Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662478",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265849.12:c.1437C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000535.7:c.1437C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265849.7:p.His479Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000526.2:p.His479Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827099834",
      "coordinates": [
        {
          "allele": "G",
          "end": 1462,
          "referenceAllele": "C",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322003.2:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308932.1:p.His344Gln",
        "hgvsWellDefined": "NP_001308932.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827106461",
      "coordinates": [
        {
          "allele": "G",
          "end": 1327,
          "referenceAllele": "C",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322004.2:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308933.1:p.His344Gln",
        "hgvsWellDefined": "NP_001308933.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827112407",
      "coordinates": [
        {
          "allele": "G",
          "end": 1657,
          "referenceAllele": "C",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322005.2:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308934.1:p.His344Gln",
        "hgvsWellDefined": "NP_001308934.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827115587",
      "coordinates": [
        {
          "allele": "G",
          "end": 1311,
          "referenceAllele": "C",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322006.2:c.1281C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308935.1:p.His427Gln",
        "hgvsWellDefined": "NP_001308935.1:p.His427Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827123033",
      "coordinates": [
        {
          "allele": "G",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322008.2:c.1119C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308937.1:p.His373Gln",
        "hgvsWellDefined": "NP_001308937.1:p.His373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827124181",
      "coordinates": [
        {
          "allele": "G",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322009.2:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308938.1:p.His344Gln",
        "hgvsWellDefined": "NP_001308938.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827126830",
      "coordinates": [
        {
          "allele": "G",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322010.2:c.876C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308939.1:p.His292Gln",
        "hgvsWellDefined": "NP_001308939.1:p.His292Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827128935",
      "coordinates": [
        {
          "allele": "G",
          "end": 1418,
          "referenceAllele": "C",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322011.2:c.504C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308940.1:p.His168Gln",
        "hgvsWellDefined": "NP_001308940.1:p.His168Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827130845",
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322012.2:c.504C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308941.1:p.His168Gln",
        "hgvsWellDefined": "NP_001308941.1:p.His168Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827133272",
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322013.2:c.864C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308942.1:p.His288Gln",
        "hgvsWellDefined": "NP_001308942.1:p.His288Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685621"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916025830",
      "coordinates": [
        {
          "allele": "G",
          "end": 1467,
          "referenceAllele": "C",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322014.2:c.1437C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308943.1:p.His479Gln",
        "hgvsWellDefined": "NP_001308943.1:p.His479Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827138062",
      "coordinates": [
        {
          "allele": "G",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322015.2:c.1128C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308944.1:p.His376Gln",
        "hgvsWellDefined": "NP_001308944.1:p.His376Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827118509",
      "coordinates": [
        {
          "allele": "G",
          "end": 1364,
          "referenceAllele": "C",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322007.2:c.1119C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308936.1:p.His373Gln",
        "hgvsWellDefined": "NP_001308936.1:p.His373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718053"
    }
  ],
  "type": "nucleotide"
}