{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA383333300",
  "communityStandardTitle": [
    "NM_018979.4(WNK1):c.5424G>A (p.Met1808Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.998365G>A?assembly=hg19",
        "id": "chr12:g.998365G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.889199G>A?assembly=hg38",
        "id": "chr12:g.889199G>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 889199,
          "referenceAllele": "G",
          "start": 889198
        }
      ],
      "hgvs": [
        "NC_000012.12:g.889199G>A",
        "CM000674.2:g.889199G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 998365,
          "referenceAllele": "G",
          "start": 998364
        }
      ],
      "hgvs": [
        "NC_000012.11:g.998365G>A",
        "CM000674.1:g.998365G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 868626,
          "referenceAllele": "G",
          "start": 868625
        }
      ],
      "hgvs": [
        "NC_000012.10:g.868626G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 141141,
          "referenceAllele": "G",
          "start": 141140
        }
      ],
      "hgvs": [
        "NG_007984.2:g.141141G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000752"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 141141,
          "referenceAllele": "G",
          "start": 141140
        }
      ],
      "hgvs": [
        "NG_007984.3:g.141141G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6411,
          "referenceAllele": "G",
          "start": 6410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "ENST00000315939.11:c.5424G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313059.6:p.Met1808Ile",
        "hgvsWellDefined": "ENSP00000313059.6:p.Met1808Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746026",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000315939.11:c.5424G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018979.4:c.5424G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313059.6:p.Met1808Ile"
          },
          "RefSeq": {
            "hgvs": "NP_061852.3:p.Met1808Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7167,
          "referenceAllele": "G",
          "start": 7166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "ENST00000340908.9:c.6180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341292.5:p.Met2060Ile",
        "hgvsWellDefined": "ENSP00000341292.5:p.Met2060Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747942",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340908.9:c.6180G>A"
          },
          "RefSeq": {
            "hgvs": "NM_213655.5:c.6180G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341292.5:p.Met2060Ile"
          },
          "RefSeq": {
            "hgvs": "NP_998820.3:p.Met2060Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4472,
          "referenceAllele": "G",
          "start": 4471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "ENST00000675631.1:c.4203G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502415.1:p.Met1401Ile",
        "hgvsWellDefined": "ENSP00000502415.1:p.Met1401Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2871,
          "referenceAllele": "G",
          "start": 2870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "ENST00000676347.1:c.2871G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501875.1:p.Met957Ile",
        "hgvsWellDefined": "ENSP00000501875.1:p.Met957Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6067,
          "referenceAllele": "G",
          "start": 6066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "ENST00000315939.10:c.5424G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313059.6:p.Met1808Ile",
        "hgvsWellDefined": "ENSP00000313059.6:p.Met1808Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6823,
          "referenceAllele": "G",
          "start": 6822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "ENST00000340908.8:c.6180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341292.5:p.Met2060Ile",
        "hgvsWellDefined": "ENSP00000341292.5:p.Met2060Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7306,
          "referenceAllele": "G",
          "start": 7305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "ENST00000530271.6:c.6663G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433548.3:p.Met2221Ile",
        "hgvsWellDefined": "ENSP00000433548.3:p.Met2221Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5656,
          "referenceAllele": "G",
          "start": 5655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "ENST00000535572.5:c.4683G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441972.1:p.Met1561Ile",
        "hgvsWellDefined": "ENSP00000441972.1:p.Met1561Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6847,
          "referenceAllele": "G",
          "start": 6846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "ENST00000537687.5:c.6204G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444465.1:p.Met2068Ile",
        "hgvsWellDefined": "ENSP00000444465.1:p.Met2068Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658670832",
      "coordinates": [
        {
          "allele": "A",
          "end": 6847,
          "referenceAllele": "G",
          "start": 6846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "NM_001184985.1:c.6204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171914.1:p.Met2068Ile",
        "hgvsWellDefined": "NP_001171914.1:p.Met2068Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829773441",
      "coordinates": [
        {
          "allele": "A",
          "end": 5326,
          "referenceAllele": "G",
          "start": 5325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "NM_014823.2:c.4683G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055638.2:p.Met1561Ile",
        "hgvsWellDefined": "NP_055638.2:p.Met1561Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829925477",
      "coordinates": [
        {
          "allele": "A",
          "end": 6067,
          "referenceAllele": "G",
          "start": 6066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "NM_018979.3:c.5424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061852.3:p.Met1808Ile",
        "hgvsWellDefined": "NP_061852.3:p.Met1808Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035988"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645383232",
      "coordinates": [
        {
          "allele": "A",
          "end": 6823,
          "referenceAllele": "G",
          "start": 6822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "NM_213655.4:c.6180G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_998820.3:p.Met2060Ile",
        "hgvsWellDefined": "NP_998820.3:p.Met2060Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6394,
          "referenceAllele": "G",
          "start": 6393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_006719003.1:c.5421G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719066.1:p.Met1807Ile",
        "hgvsWellDefined": "XP_006719066.1:p.Met1807Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7636,
          "referenceAllele": "G",
          "start": 7635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011520997.1:c.6663G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519299.1:p.Met2221Ile",
        "hgvsWellDefined": "XP_011519299.1:p.Met2221Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088161"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7633,
          "referenceAllele": "G",
          "start": 7632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011520998.1:c.6660G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519300.1:p.Met2220Ile",
        "hgvsWellDefined": "XP_011519300.1:p.Met2220Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7636,
          "referenceAllele": "G",
          "start": 7635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011520999.1:c.6663G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519301.1:p.Met2221Ile",
        "hgvsWellDefined": "XP_011519301.1:p.Met2221Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7636,
          "referenceAllele": "G",
          "start": 7635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521000.1:c.6663G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519302.1:p.Met2221Ile",
        "hgvsWellDefined": "XP_011519302.1:p.Met2221Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7357,
          "referenceAllele": "G",
          "start": 7356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521001.1:c.6384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519303.1:p.Met2128Ile",
        "hgvsWellDefined": "XP_011519303.1:p.Met2128Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7174,
          "referenceAllele": "G",
          "start": 7173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521002.1:c.6201G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519304.1:p.Met2067Ile",
        "hgvsWellDefined": "XP_011519304.1:p.Met2067Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6898,
          "referenceAllele": "G",
          "start": 6897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521003.1:c.5925G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519305.1:p.Met1975Ile",
        "hgvsWellDefined": "XP_011519305.1:p.Met1975Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6895,
          "referenceAllele": "G",
          "start": 6894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521004.1:c.5922G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519306.1:p.Met1974Ile",
        "hgvsWellDefined": "XP_011519306.1:p.Met1974Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5706,
          "referenceAllele": "G",
          "start": 5705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521005.1:c.5442G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519307.1:p.Met1814Ile",
        "hgvsWellDefined": "XP_011519307.1:p.Met1814Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6313,
          "referenceAllele": "G",
          "start": 6312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521006.1:c.5340G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519308.1:p.Met1780Ile",
        "hgvsWellDefined": "XP_011519308.1:p.Met1780Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6310,
          "referenceAllele": "G",
          "start": 6309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521007.1:c.5337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519309.1:p.Met1779Ile",
        "hgvsWellDefined": "XP_011519309.1:p.Met1779Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5575,
          "referenceAllele": "G",
          "start": 5574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521008.1:c.4602G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519310.1:p.Met1534Ile",
        "hgvsWellDefined": "XP_011519310.1:p.Met1534Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5572,
          "referenceAllele": "G",
          "start": 5571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521009.1:c.4599G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519311.1:p.Met1533Ile",
        "hgvsWellDefined": "XP_011519311.1:p.Met1533Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6389,
          "referenceAllele": "G",
          "start": 6388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_006719003.2:c.5421G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719066.1:p.Met1807Ile",
        "hgvsWellDefined": "XP_006719066.1:p.Met1807Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539752"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7636,
          "referenceAllele": "G",
          "start": 7635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011520997.3:c.6663G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519299.1:p.Met2221Ile",
        "hgvsWellDefined": "XP_011519299.1:p.Met2221Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7628,
          "referenceAllele": "G",
          "start": 7627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011520998.2:c.6660G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519300.1:p.Met2220Ile",
        "hgvsWellDefined": "XP_011519300.1:p.Met2220Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7631,
          "referenceAllele": "G",
          "start": 7630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011520999.2:c.6663G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519301.1:p.Met2221Ile",
        "hgvsWellDefined": "XP_011519301.1:p.Met2221Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7631,
          "referenceAllele": "G",
          "start": 7630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521000.2:c.6663G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519302.1:p.Met2221Ile",
        "hgvsWellDefined": "XP_011519302.1:p.Met2221Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7352,
          "referenceAllele": "G",
          "start": 7351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521001.2:c.6384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519303.1:p.Met2128Ile",
        "hgvsWellDefined": "XP_011519303.1:p.Met2128Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7169,
          "referenceAllele": "G",
          "start": 7168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521002.2:c.6201G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519304.1:p.Met2067Ile",
        "hgvsWellDefined": "XP_011519304.1:p.Met2067Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6893,
          "referenceAllele": "G",
          "start": 6892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521003.2:c.5925G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519305.1:p.Met1975Ile",
        "hgvsWellDefined": "XP_011519305.1:p.Met1975Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6890,
          "referenceAllele": "G",
          "start": 6889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521004.2:c.5922G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519306.1:p.Met1974Ile",
        "hgvsWellDefined": "XP_011519306.1:p.Met1974Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6115,
          "referenceAllele": "G",
          "start": 6114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521005.2:c.5442G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519307.1:p.Met1814Ile",
        "hgvsWellDefined": "XP_011519307.1:p.Met1814Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6308,
          "referenceAllele": "G",
          "start": 6307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521006.2:c.5340G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519308.1:p.Met1780Ile",
        "hgvsWellDefined": "XP_011519308.1:p.Met1780Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6305,
          "referenceAllele": "G",
          "start": 6304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521007.2:c.5337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519309.1:p.Met1779Ile",
        "hgvsWellDefined": "XP_011519309.1:p.Met1779Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5570,
          "referenceAllele": "G",
          "start": 5569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521008.2:c.4602G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519310.1:p.Met1534Ile",
        "hgvsWellDefined": "XP_011519310.1:p.Met1534Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5567,
          "referenceAllele": "G",
          "start": 5566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_011521009.2:c.4599G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519311.1:p.Met1533Ile",
        "hgvsWellDefined": "XP_011519311.1:p.Met1533Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5930,
          "referenceAllele": "G",
          "start": 5929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_017019834.1:c.4962G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875323.1:p.Met1654Ile",
        "hgvsWellDefined": "XP_016875323.1:p.Met1654Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5849,
          "referenceAllele": "G",
          "start": 5848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_017019835.1:c.4881G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875324.1:p.Met1627Ile",
        "hgvsWellDefined": "XP_016875324.1:p.Met1627Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5846,
          "referenceAllele": "G",
          "start": 5845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_017019836.1:c.4878G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875325.1:p.Met1626Ile",
        "hgvsWellDefined": "XP_016875325.1:p.Met1626Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5654,
          "referenceAllele": "G",
          "start": 5653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_017019837.1:c.4686G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875326.1:p.Met1562Ile",
        "hgvsWellDefined": "XP_016875326.1:p.Met1562Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5651,
          "referenceAllele": "G",
          "start": 5650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_017019838.1:c.4683G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875327.1:p.Met1561Ile",
        "hgvsWellDefined": "XP_016875327.1:p.Met1561Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5570,
          "referenceAllele": "G",
          "start": 5569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "XM_017019839.1:c.4602G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875328.1:p.Met1534Ile",
        "hgvsWellDefined": "XP_016875328.1:p.Met1534Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829925477",
      "coordinates": [
        {
          "allele": "A",
          "end": 6411,
          "referenceAllele": "G",
          "start": 6410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "NM_018979.4:c.5424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061852.3:p.Met1808Ile",
        "hgvsWellDefined": "NP_061852.3:p.Met1808Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669783",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000315939.11:c.5424G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018979.4:c.5424G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313059.6:p.Met1808Ile"
          },
          "RefSeq": {
            "hgvs": "NP_061852.3:p.Met1808Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829773441",
      "coordinates": [
        {
          "allele": "A",
          "end": 5670,
          "referenceAllele": "G",
          "start": 5669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "NM_014823.3:c.4683G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055638.2:p.Met1561Ile",
        "hgvsWellDefined": "NP_055638.2:p.Met1561Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697358"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658670832",
      "coordinates": [
        {
          "allele": "A",
          "end": 7191,
          "referenceAllele": "G",
          "start": 7190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "NM_001184985.2:c.6204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171914.1:p.Met2068Ile",
        "hgvsWellDefined": "NP_001171914.1:p.Met2068Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713637"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645383232",
      "coordinates": [
        {
          "allele": "A",
          "end": 7167,
          "referenceAllele": "G",
          "start": 7166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "NM_213655.5:c.6180G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_998820.3:p.Met2060Ile",
        "hgvsWellDefined": "NP_998820.3:p.Met2060Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730159",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340908.9:c.6180G>A"
          },
          "RefSeq": {
            "hgvs": "NM_213655.5:c.6180G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341292.5:p.Met2060Ile"
          },
          "RefSeq": {
            "hgvs": "NP_998820.3:p.Met2060Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}