{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210309",
  "communityStandardTitle": [
    "NM_017777.4(MKS1):c.1389G>T (p.Arg463=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214361[alleleid]",
        "alleleId": 214361,
        "preferredName": "NM_017777.4(MKS1):c.1389G>T (p.Arg463=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217683",
        "RCV": [
          "RCV000201691",
          "RCV001447386"
        ],
        "variationId": 217683
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-56284464-C-A",
        "id": "17-56284464-C-A",
        "variant": "17:56284464 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.56284464C>A?assembly=hg19",
        "id": "chr17:g.56284464C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.58207103C>A?assembly=hg38",
        "id": "chr17:g.58207103C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773269657",
        "rs": 773269657
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-56284464-C-A?dataset=gnomad_r2_1",
        "id": "17-56284464-C-A",
        "variant": "17:56284464 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-58207103-C-A?dataset=gnomad_r4",
        "id": "17-58207103-C-A",
        "variant": "17:58207103 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 58207103,
          "referenceAllele": "C",
          "start": 58207102
        }
      ],
      "hgvs": [
        "NC_000017.11:g.58207103C>A",
        "CM000679.2:g.58207103C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 56284464,
          "referenceAllele": "C",
          "start": 56284463
        }
      ],
      "hgvs": [
        "NC_000017.10:g.56284464C>A",
        "CM000679.1:g.56284464C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 53639463,
          "referenceAllele": "C",
          "start": 53639462
        }
      ],
      "hgvs": [
        "NC_000017.9:g.53639463C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19376,
          "referenceAllele": "C",
          "start": 19375
        }
      ],
      "hgvs": [
        "NG_013020.1:g.19376C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17503,
          "referenceAllele": "G",
          "start": 17502
        }
      ],
      "hgvs": [
        "NG_013032.1:g.17503G>T",
        "LRG_687:g.17503G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002676"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "endIntronDirection": "-",
          "endIntronOffset": 722,
          "referenceAllele": "G",
          "start": 1298,
          "startIntronDirection": "-",
          "startIntronOffset": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000313863.11:c.1274-723G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316631.6:n.1274-723G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393119.7:c.1389G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376827.2:p.Arg463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393119.7:c.1389G>T"
          },
          "RefSeq": {
            "hgvs": "NM_017777.4:c.1389G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376827.2:p.Arg463="
          },
          "RefSeq": {
            "hgvs": "NP_060247.2:p.Arg463="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000537529.7:c.960G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442096.3:p.Arg320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1474,
          "referenceAllele": "G",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000675753.2:c.*1008G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502156.1:n.*1008G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1285,
          "referenceAllele": "G",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000676787.1:c.1260G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503999.1:p.Arg420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1305,
          "referenceAllele": "G",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677111.1:c.*326G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504282.1:n.*326G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2663,
          "referenceAllele": "G",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677160.1:n.2663G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2089,
          "referenceAllele": "G",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677416.1:n.2089G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1031,
          "referenceAllele": "G",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677486.1:c.*733G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503852.1:n.*733G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2089,
          "referenceAllele": "G",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677709.1:n.2089G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1752,
          "referenceAllele": "G",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678011.1:n.1752G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1629,
          "referenceAllele": "G",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678432.1:c.*1163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504452.1:n.*1163G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678463.1:c.1389G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502984.1:p.Arg463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1177,
          "referenceAllele": "G",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678568.1:c.*796G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504754.1:n.*796G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678641.1:c.*733G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503159.1:n.*733G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678763.1:n.1167G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1275,
          "endIntronDirection": "-",
          "endIntronOffset": 722,
          "referenceAllele": "G",
          "start": 1275,
          "startIntronDirection": "-",
          "startIntronOffset": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000313863.10:c.1274-723G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316631.6:n.1274-723G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1464,
          "referenceAllele": "G",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393119.6:c.1389G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376827.2:p.Arg463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393120.6:c.*796G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376828.2:n.*796G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000537529.6:c.1359G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442096.2:p.Arg453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001165927.1:c.1359G>T",
        "LRG_687t2:c.1359G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159399.1:p.Arg453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014730"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829881803",
      "coordinates": [
        {
          "allele": "T",
          "end": 1464,
          "referenceAllele": "G",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_017777.3:c.1389G>T",
        "LRG_687t1:c.1389G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060247.2:p.Arg463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1450,
          "referenceAllele": "G",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257483.3:c.1389G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257540.1:p.Arg463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1445,
          "referenceAllele": "G",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257485.3:c.960G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257542.1:p.Arg320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "G",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257486.3:c.780G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257543.1:p.Arg260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "G",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_006721965.2:c.780G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722028.1:p.Arg260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524957.1:c.1398G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523259.1:p.Arg466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092076"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524958.1:c.1398G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523260.1:p.Arg466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092077"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "endIntronDirection": "-",
          "endIntronOffset": 722,
          "referenceAllele": "G",
          "start": 1330,
          "startIntronDirection": "-",
          "startIntronOffset": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524959.1:c.1283-723G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523261.1:n.1283-723G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092078"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827090543",
      "coordinates": [
        {
          "allele": "T",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321268.1:c.780G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308197.1:p.Arg260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827091794",
      "coordinates": [
        {
          "allele": "T",
          "end": 1464,
          "referenceAllele": "G",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321269.1:c.1389G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308198.1:p.Arg463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1348,
          "endIntronDirection": "-",
          "endIntronOffset": 722,
          "referenceAllele": "G",
          "start": 1348,
          "startIntronDirection": "-",
          "startIntronOffset": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001330397.1:c.1274-723G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317326.1:n.1274-723G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1478,
          "referenceAllele": "G",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257485.4:c.960G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257542.1:p.Arg320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1320,
          "referenceAllele": "G",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_006721965.3:c.780G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722028.1:p.Arg260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524957.2:c.1398G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523259.1:p.Arg466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524958.2:c.1398G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523260.1:p.Arg466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1327,
          "endIntronDirection": "-",
          "endIntronOffset": 722,
          "referenceAllele": "G",
          "start": 1327,
          "startIntronDirection": "-",
          "startIntronOffset": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524959.2:c.1283-723G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523261.1:n.1283-723G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1478,
          "referenceAllele": "G",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_017024805.1:c.960G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880294.1:p.Arg320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1400,
          "referenceAllele": "G",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XR_002958042.1:n.1400G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827090543",
      "coordinates": [
        {
          "allele": "T",
          "end": 1316,
          "referenceAllele": "G",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321268.2:c.780G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308197.1:p.Arg260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827091794",
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321269.2:c.1389G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308198.1:p.Arg463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "endIntronDirection": "-",
          "endIntronOffset": 722,
          "referenceAllele": "G",
          "start": 1298,
          "startIntronDirection": "-",
          "startIntronOffset": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001330397.2:c.1274-723G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317326.1:n.1274-723G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829881803",
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_017777.4:c.1389G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060247.2:p.Arg463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393119.7:c.1389G>T"
          },
          "RefSeq": {
            "hgvs": "NM_017777.4:c.1389G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376827.2:p.Arg463="
          },
          "RefSeq": {
            "hgvs": "NP_060247.2:p.Arg463="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}