{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7464420",
  "communityStandardTitle": [
    "NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=322257[alleleid]",
        "alleleId": 322257,
        "preferredName": "NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/315618",
        "RCV": [
          "RCV000395538",
          "RCV000879703",
          "RCV003957635"
        ],
        "variationId": 315618
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-34546655-G-A",
        "id": "15-34546655-G-A",
        "variant": "15:34546655 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34546655G>A?assembly=hg19",
        "id": "chr15:g.34546655G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34254454G>A?assembly=hg38",
        "id": "chr15:g.34254454G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77122016",
        "rs": 77122016
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34546655-G-A?dataset=gnomad_r2_1",
        "id": "15-34546655-G-A",
        "variant": "15:34546655 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34254454-G-A?dataset=gnomad_r3",
        "id": "15-34254454-G-A",
        "variant": "15:34254454 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34254454-G-A?dataset=gnomad_r4",
        "id": "15-34254454-G-A",
        "variant": "15:34254454 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 34254454,
          "referenceAllele": "G",
          "start": 34254453
        }
      ],
      "hgvs": [
        "NC_000015.10:g.34254454G>A",
        "CM000677.2:g.34254454G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 34546655,
          "referenceAllele": "G",
          "start": 34546654
        }
      ],
      "hgvs": [
        "NC_000015.9:g.34546655G>A",
        "CM000677.1:g.34546655G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 32333947,
          "referenceAllele": "G",
          "start": 32333946
        }
      ],
      "hgvs": [
        "NC_000015.8:g.32333947G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88611,
          "referenceAllele": "C",
          "start": 88610
        }
      ],
      "hgvs": [
        "NG_007951.1:g.88611C>T",
        "LRG_270:g.88611C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1534,
          "referenceAllele": "C",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.8:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Arg338Cys",
        "hgvsWellDefined": "ENSP00000346112.3:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.1012C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.1012C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Arg338Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Arg338Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1794,
          "referenceAllele": "C",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000675289.1:n.1794C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1794,
          "referenceAllele": "C",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000676379.1:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502539.1:p.Arg338Cys",
        "hgvsWellDefined": "ENSP00000502539.1:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000290209.9:c.859C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290209.5:p.Arg287Cys",
        "hgvsWellDefined": "ENSP00000290209.5:p.Arg287Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.7:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Arg338Cys",
        "hgvsWellDefined": "ENSP00000346112.3:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1033,
          "referenceAllele": "C",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397702.6:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380814.2:p.Arg279Cys",
        "hgvsWellDefined": "ENSP00000380814.2:p.Arg279Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397707.6:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380819.2:p.Arg323Cys",
        "hgvsWellDefined": "ENSP00000380819.2:p.Arg323Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1362,
          "referenceAllele": "C",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000458406.6:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387725.2:p.Arg279Cys",
        "hgvsWellDefined": "ENSP00000387725.2:p.Arg279Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1425,
          "referenceAllele": "C",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558589.5:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452776.1:p.Arg329Cys",
        "hgvsWellDefined": "ENSP00000452776.1:p.Arg329Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558667.5:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453473.1:p.Arg338Cys",
        "hgvsWellDefined": "ENSP00000453473.1:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1362,
          "referenceAllele": "C",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559523.5:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452904.1:p.Arg279Cys",
        "hgvsWellDefined": "ENSP00000452904.1:p.Arg279Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2118,
          "referenceAllele": "C",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559664.5:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453702.1:p.Arg338Cys",
        "hgvsWellDefined": "ENSP00000453702.1:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560164.5:c.448C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452705.1:p.Arg150Cys",
        "hgvsWellDefined": "ENSP00000452705.1:p.Arg150Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560611.5:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454168.1:p.Arg338Cys",
        "hgvsWellDefined": "ENSP00000454168.1:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2389,
          "referenceAllele": "C",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000561080.5:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454069.1:p.Arg338Cys",
        "hgvsWellDefined": "ENSP00000454069.1:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825407812",
      "coordinates": [
        {
          "allele": "T",
          "end": 1362,
          "referenceAllele": "C",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.1:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Arg279Cys",
        "hgvsWellDefined": "NP_001035959.1:p.Arg279Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825408540",
      "coordinates": [
        {
          "allele": "T",
          "end": 1037,
          "referenceAllele": "C",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.1:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Arg279Cys",
        "hgvsWellDefined": "NP_001035960.1:p.Arg279Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409307",
      "coordinates": [
        {
          "allele": "T",
          "end": 1428,
          "referenceAllele": "C",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.1:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Arg329Cys",
        "hgvsWellDefined": "NP_001035961.1:p.Arg329Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825410077",
      "coordinates": [
        {
          "allele": "T",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Arg323Cys",
        "hgvsWellDefined": "NP_001035962.1:p.Arg323Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829583309",
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "referenceAllele": "C",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_005135.2:c.859C>T",
        "LRG_270t1:c.859C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005126.1:p.Arg287Cys",
        "hgvsWellDefined": "NP_005126.1:p.Arg287Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645415121",
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.1:c.1012C>T",
        "LRG_270t2:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Arg338Cys",
        "hgvsWellDefined": "NP_598408.1:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 871,
          "referenceAllele": "C",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.2:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Arg289Cys",
        "hgvsWellDefined": "XP_006720856.1:p.Arg289Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522267.1:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520569.1:p.Arg338Cys",
        "hgvsWellDefined": "XP_011520569.1:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1181,
          "referenceAllele": "C",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522268.1:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520570.1:p.Arg338Cys",
        "hgvsWellDefined": "XP_011520570.1:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "C",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522269.1:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520571.1:p.Arg338Cys",
        "hgvsWellDefined": "XP_011520571.1:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "C",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_429476.2:n.1018C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "C",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.1:n.1018C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "C",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931961.1:n.1018C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828165556",
      "coordinates": [
        {
          "allele": "T",
          "end": 1534,
          "referenceAllele": "C",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001365088.1:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352017.1:p.Arg338Cys",
        "hgvsWellDefined": "NP_001352017.1:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.1012C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.1012C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Arg338Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Arg338Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2112,
          "referenceAllele": "C",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.4:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Arg289Cys",
        "hgvsWellDefined": "XP_006720856.1:p.Arg289Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2263,
          "referenceAllele": "C",
          "start": 2262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522269.3:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520571.1:p.Arg338Cys",
        "hgvsWellDefined": "XP_011520571.1:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2262,
          "referenceAllele": "C",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.3:n.2262C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825407812",
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.2:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Arg279Cys",
        "hgvsWellDefined": "NP_001035959.1:p.Arg279Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825408540",
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.2:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Arg279Cys",
        "hgvsWellDefined": "NP_001035960.1:p.Arg279Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676039"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409307",
      "coordinates": [
        {
          "allele": "T",
          "end": 1449,
          "referenceAllele": "C",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.2:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Arg329Cys",
        "hgvsWellDefined": "NP_001035961.1:p.Arg329Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676040"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825410077",
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Arg323Cys",
        "hgvsWellDefined": "NP_001035962.1:p.Arg323Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645415121",
      "coordinates": [
        {
          "allele": "T",
          "end": 1348,
          "referenceAllele": "C",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.2:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Arg338Cys",
        "hgvsWellDefined": "NP_598408.1:p.Arg338Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729120"
    }
  ],
  "type": "nucleotide"
}