{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210326",
  "communityStandardTitle": [
    "NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214363[alleleid]",
        "alleleId": 214363,
        "preferredName": "NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217672",
        "RCV": [
          "RCV000201754",
          "RCV000479872",
          "RCV000984285",
          "RCV000984284",
          "RCV000984286",
          "RCV001853235",
          "RCV003230449"
        ],
        "variationId": 217672
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.56285320G>A?assembly=hg19",
        "id": "chr17:g.56285320G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.58207959G>A?assembly=hg38",
        "id": "chr17:g.58207959G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773684291",
        "rs": 773684291
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-56285320-G-A?dataset=gnomad_r2_1",
        "id": "17-56285320-G-A",
        "variant": "17:56285320 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-58207959-G-A?dataset=gnomad_r3",
        "id": "17-58207959-G-A",
        "variant": "17:58207959 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-58207959-G-A?dataset=gnomad_r4",
        "id": "17-58207959-G-A",
        "variant": "17:58207959 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 58207959,
          "referenceAllele": "G",
          "start": 58207958
        }
      ],
      "hgvs": [
        "NC_000017.11:g.58207959G>A",
        "CM000679.2:g.58207959G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 56285320,
          "referenceAllele": "G",
          "start": 56285319
        }
      ],
      "hgvs": [
        "NC_000017.10:g.56285320G>A",
        "CM000679.1:g.56285320G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 53640319,
          "referenceAllele": "G",
          "start": 53640318
        }
      ],
      "hgvs": [
        "NC_000017.9:g.53640319G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16647,
          "referenceAllele": "C",
          "start": 16646
        }
      ],
      "hgvs": [
        "NG_013032.1:g.16647C>T",
        "LRG_687:g.16647C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002676"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000313863.11:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316631.6:p.Ser403Leu",
        "hgvsWellDefined": "ENSP00000316631.6:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393119.7:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376827.2:p.Ser403Leu",
        "hgvsWellDefined": "ENSP00000376827.2:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393119.7:c.1208C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017777.4:c.1208C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376827.2:p.Ser403Leu"
          },
          "RefSeq": {
            "hgvs": "NP_060247.2:p.Ser403Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1272,
          "referenceAllele": "C",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000537529.7:c.779C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442096.3:p.Ser260Leu",
        "hgvsWellDefined": "ENSP00000442096.3:p.Ser260Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000580127.6:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462423.2:p.Ser403Leu",
        "hgvsWellDefined": "ENSP00000462423.2:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000585134.2:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463826.2:p.Ser403Leu",
        "hgvsWellDefined": "ENSP00000463826.2:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1293,
          "referenceAllele": "C",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000675753.2:c.*827C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502156.1:n.*827C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1104,
          "referenceAllele": "C",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000676787.1:c.1079C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503999.1:p.Ser360Leu",
        "hgvsWellDefined": "ENSP00000503999.1:p.Ser360Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677111.1:c.*145C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504282.1:n.*145C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2482,
          "referenceAllele": "C",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677160.1:n.2482C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677416.1:n.1233C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "C",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677486.1:c.*552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503852.1:n.*552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677709.1:n.1233C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678011.1:n.1571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1293,
          "referenceAllele": "C",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678432.1:c.*827C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504452.1:n.*827C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678463.1:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502984.1:p.Ser403Leu",
        "hgvsWellDefined": "ENSP00000502984.1:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 996,
          "referenceAllele": "C",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678568.1:c.*615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504754.1:n.*615C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1006,
          "referenceAllele": "C",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678641.1:c.*552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503159.1:n.*552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678763.1:n.986C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1210,
          "referenceAllele": "C",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000313863.10:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316631.6:p.Ser403Leu",
        "hgvsWellDefined": "ENSP00000316631.6:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393119.6:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376827.2:p.Ser403Leu",
        "hgvsWellDefined": "ENSP00000376827.2:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1116,
          "referenceAllele": "C",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393120.6:c.*615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376828.2:n.*615C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1272,
          "referenceAllele": "C",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000537529.6:c.1178C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442096.2:p.Ser393Leu",
        "hgvsWellDefined": "ENSP00000442096.2:p.Ser393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
          "referenceAllele": "C",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000577315.5:c.261C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000577824.5:c.761C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000585134.1:c.431C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463826.1:p.Ser144Leu",
        "hgvsWellDefined": "ENSP00000463826.1:p.Ser144Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210329",
      "coordinates": [
        {
          "allele": "T",
          "end": 1272,
          "referenceAllele": "C",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001165927.1:c.1178C>T",
        "LRG_687t2:c.1178C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159399.1:p.Ser393Leu",
        "hgvsWellDefined": "NP_001159399.1:p.Ser393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014730"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210330",
      "coordinates": [
        {
          "allele": "T",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_017777.3:c.1208C>T",
        "LRG_687t1:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060247.2:p.Ser403Leu",
        "hgvsWellDefined": "NP_060247.2:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1269,
          "referenceAllele": "C",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257483.3:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257540.1:p.Ser403Leu",
        "hgvsWellDefined": "XP_005257540.1:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1264,
          "referenceAllele": "C",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257485.3:c.779C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257542.1:p.Ser260Leu",
        "hgvsWellDefined": "XP_005257542.1:p.Ser260Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257486.3:c.599C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257543.1:p.Ser200Leu",
        "hgvsWellDefined": "XP_005257543.1:p.Ser200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_006721965.2:c.599C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722028.1:p.Ser200Leu",
        "hgvsWellDefined": "XP_006722028.1:p.Ser200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524957.1:c.1217C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523259.1:p.Ser406Leu",
        "hgvsWellDefined": "XP_011523259.1:p.Ser406Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092076"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524958.1:c.1217C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523260.1:p.Ser406Leu",
        "hgvsWellDefined": "XP_011523260.1:p.Ser406Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092077"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524959.1:c.1217C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523261.1:p.Ser406Leu",
        "hgvsWellDefined": "XP_011523261.1:p.Ser406Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524960.1:c.1217C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523262.1:p.Ser406Leu",
        "hgvsWellDefined": "XP_011523262.1:p.Ser406Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1222,
          "referenceAllele": "C",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XR_934494.1:n.1222C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827090415",
      "coordinates": [
        {
          "allele": "T",
          "end": 1185,
          "referenceAllele": "C",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321268.1:c.599C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308197.1:p.Ser200Leu",
        "hgvsWellDefined": "NP_001308197.1:p.Ser200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827091658",
      "coordinates": [
        {
          "allele": "T",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321269.1:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308198.1:p.Ser403Leu",
        "hgvsWellDefined": "NP_001308198.1:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827311105",
      "coordinates": [
        {
          "allele": "T",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001330397.1:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317326.1:p.Ser403Leu",
        "hgvsWellDefined": "NP_001317326.1:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1297,
          "referenceAllele": "C",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257485.4:c.779C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257542.1:p.Ser260Leu",
        "hgvsWellDefined": "XP_005257542.1:p.Ser260Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "referenceAllele": "C",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_006721965.3:c.599C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722028.1:p.Ser200Leu",
        "hgvsWellDefined": "XP_006722028.1:p.Ser200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524957.2:c.1217C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523259.1:p.Ser406Leu",
        "hgvsWellDefined": "XP_011523259.1:p.Ser406Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524958.2:c.1217C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523260.1:p.Ser406Leu",
        "hgvsWellDefined": "XP_011523260.1:p.Ser406Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524959.2:c.1217C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523261.1:p.Ser406Leu",
        "hgvsWellDefined": "XP_011523261.1:p.Ser406Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524960.2:c.1217C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523262.1:p.Ser406Leu",
        "hgvsWellDefined": "XP_011523262.1:p.Ser406Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_017024804.2:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880293.1:p.Ser403Leu",
        "hgvsWellDefined": "XP_016880293.1:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1297,
          "referenceAllele": "C",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_017024805.1:c.779C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880294.1:p.Ser260Leu",
        "hgvsWellDefined": "XP_016880294.1:p.Ser260Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XR_002958042.1:n.1219C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827090415",
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321268.2:c.599C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308197.1:p.Ser200Leu",
        "hgvsWellDefined": "NP_001308197.1:p.Ser200Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827091658",
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321269.2:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308198.1:p.Ser403Leu",
        "hgvsWellDefined": "NP_001308198.1:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827311105",
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001330397.2:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317326.1:p.Ser403Leu",
        "hgvsWellDefined": "NP_001317326.1:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210330",
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_017777.4:c.1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060247.2:p.Ser403Leu",
        "hgvsWellDefined": "NP_060247.2:p.Ser403Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393119.7:c.1208C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017777.4:c.1208C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376827.2:p.Ser403Leu"
          },
          "RefSeq": {
            "hgvs": "NP_060247.2:p.Ser403Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}