{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273756",
  "communityStandardTitle": [
    "NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181164[alleleid]",
        "alleleId": 181164,
        "preferredName": "NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183012",
        "RCV": [
          "RCV000161135",
          "RCV000324288",
          "RCV001082780",
          "RCV001252740",
          "RCV001272920",
          "RCV001797645",
          "RCV002467638"
        ],
        "variationId": 183012
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-56283519-C-T",
        "id": "17-56283519-C-T",
        "variant": "17:56283519 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.56283519C>T?assembly=hg19",
        "id": "chr17:g.56283519C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.58206158C>T?assembly=hg38",
        "id": "chr17:g.58206158C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199910690",
        "rs": 199910690
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-56283519-C-T?dataset=gnomad_r2_1",
        "id": "17-56283519-C-T",
        "variant": "17:56283519 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-58206158-C-T?dataset=gnomad_r3",
        "id": "17-58206158-C-T",
        "variant": "17:58206158 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-58206158-C-T?dataset=gnomad_r4",
        "id": "17-58206158-C-T",
        "variant": "17:58206158 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 58206158,
          "referenceAllele": "C",
          "start": 58206157
        }
      ],
      "hgvs": [
        "NC_000017.11:g.58206158C>T",
        "CM000679.2:g.58206158C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 56283519,
          "referenceAllele": "C",
          "start": 56283518
        }
      ],
      "hgvs": [
        "NC_000017.10:g.56283519C>T",
        "CM000679.1:g.56283519C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 53638518,
          "referenceAllele": "C",
          "start": 53638517
        }
      ],
      "hgvs": [
        "NC_000017.9:g.53638518C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18431,
          "referenceAllele": "C",
          "start": 18430
        }
      ],
      "hgvs": [
        "NG_013020.1:g.18431C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18448,
          "referenceAllele": "G",
          "start": 18447
        }
      ],
      "hgvs": [
        "NG_013032.1:g.18448G>A",
        "LRG_687:g.18448G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002676"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1409,
          "referenceAllele": "G",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000313863.11:c.*13G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316631.6:n.*13G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1626,
          "referenceAllele": "G",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393119.7:c.1601G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376827.2:p.Arg534Gln",
        "hgvsWellDefined": "ENSP00000376827.2:p.Arg534Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393119.7:c.1601G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017777.4:c.1601G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376827.2:p.Arg534Gln"
          },
          "RefSeq": {
            "hgvs": "NP_060247.2:p.Arg534Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1665,
          "referenceAllele": "G",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000537529.7:c.1172G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442096.3:p.Arg391Gln",
        "hgvsWellDefined": "ENSP00000442096.3:p.Arg391Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1686,
          "referenceAllele": "G",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000675753.2:c.*1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502156.1:n.*1220G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000676787.1:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503999.1:p.Arg491Gln",
        "hgvsWellDefined": "ENSP00000503999.1:p.Arg491Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2054,
          "referenceAllele": "G",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677111.1:c.*1075G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504282.1:n.*1075G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2875,
          "referenceAllele": "G",
          "start": 2874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677160.1:n.2875G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2922,
          "referenceAllele": "G",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677416.1:n.2922G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777078"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1243,
          "referenceAllele": "G",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677486.1:c.*945G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503852.1:n.*945G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677709.1:n.2301G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2501,
          "referenceAllele": "G",
          "start": 2500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678011.1:n.2501G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1841,
          "referenceAllele": "G",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678432.1:c.*1375G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504452.1:n.*1375G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778078"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1543,
          "referenceAllele": "G",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678463.1:c.1518G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502984.1:p.Ser506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678568.1:c.*925G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504754.1:n.*925G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1399,
          "referenceAllele": "G",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678641.1:c.*945G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503159.1:n.*945G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1916,
          "referenceAllele": "G",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678763.1:n.1916G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1386,
          "referenceAllele": "G",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000313863.10:c.*13G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316631.6:n.*13G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393119.6:c.1601G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376827.2:p.Arg534Gln",
        "hgvsWellDefined": "ENSP00000376827.2:p.Arg534Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1509,
          "referenceAllele": "G",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393120.6:c.*1008G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376828.2:n.*1008G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275465"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1665,
          "referenceAllele": "G",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000537529.6:c.1571G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442096.2:p.Arg524Gln",
        "hgvsWellDefined": "ENSP00000442096.2:p.Arg524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000583577.1:n.427G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387823"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273759",
      "coordinates": [
        {
          "allele": "A",
          "end": 1665,
          "referenceAllele": "G",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001165927.1:c.1571G>A",
        "LRG_687t2:c.1571G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159399.1:p.Arg524Gln",
        "hgvsWellDefined": "NP_001159399.1:p.Arg524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014730"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273760",
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_017777.3:c.1601G>A",
        "LRG_687t1:c.1601G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060247.2:p.Arg534Gln",
        "hgvsWellDefined": "NP_060247.2:p.Arg534Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1579,
          "referenceAllele": "G",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257483.3:c.1518G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257540.1:p.Ser506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1574,
          "referenceAllele": "G",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257485.3:c.1089G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257542.1:p.Ser363="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1510,
          "referenceAllele": "G",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257486.3:c.992G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257543.1:p.Arg331Gln",
        "hgvsWellDefined": "XP_005257543.1:p.Arg331Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1427,
          "referenceAllele": "G",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_006721965.2:c.909G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722028.1:p.Ser303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524957.1:c.1527G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523259.1:p.Ser509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1658,
          "referenceAllele": "G",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524958.1:c.1610G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523260.1:p.Arg537Gln",
        "hgvsWellDefined": "XP_011523260.1:p.Arg537Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1441,
          "referenceAllele": "G",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524959.1:c.*13G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523261.1:n.*13G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092078"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827090703",
      "coordinates": [
        {
          "allele": "A",
          "end": 1578,
          "referenceAllele": "G",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321268.1:c.992G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308197.1:p.Arg331Gln",
        "hgvsWellDefined": "NP_001308197.1:p.Arg331Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827091884",
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "G",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321269.1:c.1518G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308198.1:p.Ser506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1459,
          "referenceAllele": "G",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001330397.1:c.*13G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317326.1:n.*13G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1607,
          "referenceAllele": "G",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257485.4:c.1089G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257542.1:p.Ser363="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_006721965.3:c.909G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722028.1:p.Ser303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1573,
          "referenceAllele": "G",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524957.2:c.1527G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523259.1:p.Ser509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1656,
          "referenceAllele": "G",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524958.2:c.1610G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523260.1:p.Arg537Gln",
        "hgvsWellDefined": "XP_011523260.1:p.Arg537Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1438,
          "referenceAllele": "G",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524959.2:c.*13G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523261.1:n.*13G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1690,
          "referenceAllele": "G",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_017024805.1:c.1172G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880294.1:p.Arg391Gln",
        "hgvsWellDefined": "XP_016880294.1:p.Arg391Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XR_002958042.1:n.1529G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827090703",
      "coordinates": [
        {
          "allele": "A",
          "end": 1528,
          "referenceAllele": "G",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321268.2:c.992G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308197.1:p.Arg331Gln",
        "hgvsWellDefined": "NP_001308197.1:p.Arg331Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827091884",
      "coordinates": [
        {
          "allele": "A",
          "end": 1543,
          "referenceAllele": "G",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321269.2:c.1518G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308198.1:p.Ser506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1409,
          "referenceAllele": "G",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001330397.2:c.*13G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317326.1:n.*13G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273760",
      "coordinates": [
        {
          "allele": "A",
          "end": 1626,
          "referenceAllele": "G",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_017777.4:c.1601G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060247.2:p.Arg534Gln",
        "hgvsWellDefined": "NP_060247.2:p.Arg534Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393119.7:c.1601G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017777.4:c.1601G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376827.2:p.Arg534Gln"
          },
          "RefSeq": {
            "hgvs": "NP_060247.2:p.Arg534Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}