{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA391612685",
  "communityStandardTitle": [
    "NM_001365088.1(SLC12A6):c.630G>T (p.Trp210Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1353279[alleleid]",
        "alleleId": 1353279,
        "preferredName": "NM_001365088.1(SLC12A6):c.630G>T (p.Trp210Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1424771",
        "RCV": [
          "RCV001957250",
          "RCV002560471"
        ],
        "variationId": 1424771
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34549903C>A?assembly=hg19",
        "id": "chr15:g.34549903C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34257702C>A?assembly=hg38",
        "id": "chr15:g.34257702C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516898",
        "rs": 1057516898
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34257702-C-A?dataset=gnomad_r3",
        "id": "15-34257702-C-A",
        "variant": "15:34257702 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34257702-C-A?dataset=gnomad_r4",
        "id": "15-34257702-C-A",
        "variant": "15:34257702 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 34257702,
          "referenceAllele": "C",
          "start": 34257701
        }
      ],
      "hgvs": [
        "NC_000015.10:g.34257702C>A",
        "CM000677.2:g.34257702C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 34549903,
          "referenceAllele": "C",
          "start": 34549902
        }
      ],
      "hgvs": [
        "NC_000015.9:g.34549903C>A",
        "CM000677.1:g.34549903C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 32337195,
          "referenceAllele": "C",
          "start": 32337194
        }
      ],
      "hgvs": [
        "NC_000015.8:g.32337195C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85363,
          "referenceAllele": "G",
          "start": 85362
        }
      ],
      "hgvs": [
        "NG_007951.1:g.85363G>T",
        "LRG_270:g.85363G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "G",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.8:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Trp210Cys",
        "hgvsWellDefined": "ENSP00000346112.3:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.630G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.630G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Trp210Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Trp210Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1412,
          "referenceAllele": "G",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000675289.1:n.1412G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1412,
          "referenceAllele": "G",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000676379.1:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502539.1:p.Trp210Cys",
        "hgvsWellDefined": "ENSP00000502539.1:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000290209.9:c.477G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290209.5:p.Trp159Cys",
        "hgvsWellDefined": "ENSP00000290209.5:p.Trp159Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1123,
          "referenceAllele": "G",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.7:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Trp210Cys",
        "hgvsWellDefined": "ENSP00000346112.3:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397702.6:c.453G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380814.2:p.Trp151Cys",
        "hgvsWellDefined": "ENSP00000380814.2:p.Trp151Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397707.6:c.585G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380819.2:p.Trp195Cys",
        "hgvsWellDefined": "ENSP00000380819.2:p.Trp195Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000458406.6:c.453G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387725.2:p.Trp151Cys",
        "hgvsWellDefined": "ENSP00000387725.2:p.Trp151Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558589.5:c.603G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452776.1:p.Trp201Cys",
        "hgvsWellDefined": "ENSP00000452776.1:p.Trp201Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558667.5:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453473.1:p.Trp210Cys",
        "hgvsWellDefined": "ENSP00000453473.1:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559523.5:c.453G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452904.1:p.Trp151Cys",
        "hgvsWellDefined": "ENSP00000452904.1:p.Trp151Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "referenceAllele": "G",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559664.5:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453702.1:p.Trp210Cys",
        "hgvsWellDefined": "ENSP00000453702.1:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "endIntronDirection": "+",
          "endIntronOffset": 1111,
          "referenceAllele": "G",
          "start": 362,
          "startIntronDirection": "+",
          "startIntronOffset": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560164.5:c.126+1111G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452705.1:n.126+1111G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560332.1:c.213G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454037.1:p.Trp71Cys",
        "hgvsWellDefined": "ENSP00000454037.1:p.Trp71Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560611.5:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454168.1:p.Trp210Cys",
        "hgvsWellDefined": "ENSP00000454168.1:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2007,
          "referenceAllele": "G",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000561080.5:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454069.1:p.Trp210Cys",
        "hgvsWellDefined": "ENSP00000454069.1:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825407702",
      "coordinates": [
        {
          "allele": "T",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.1:c.453G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Trp151Cys",
        "hgvsWellDefined": "NP_001035959.1:p.Trp151Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825408430",
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.1:c.453G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Trp151Cys",
        "hgvsWellDefined": "NP_001035960.1:p.Trp151Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409198",
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.1:c.603G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Trp201Cys",
        "hgvsWellDefined": "NP_001035961.1:p.Trp201Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409968",
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.1:c.585G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Trp195Cys",
        "hgvsWellDefined": "NP_001035962.1:p.Trp195Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829583135",
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_005135.2:c.477G>T",
        "LRG_270t1:c.477G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005126.1:p.Trp159Cys",
        "hgvsWellDefined": "NP_005126.1:p.Trp159Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573300819",
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.1:c.630G>T",
        "LRG_270t2:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Trp210Cys",
        "hgvsWellDefined": "NP_598408.1:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "endIntronDirection": "+",
          "endIntronOffset": 1111,
          "referenceAllele": "G",
          "start": 549,
          "startIntronDirection": "+",
          "startIntronOffset": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.2:c.543+1111G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:n.543+1111G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522267.1:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520569.1:p.Trp210Cys",
        "hgvsWellDefined": "XP_011520569.1:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522268.1:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520570.1:p.Trp210Cys",
        "hgvsWellDefined": "XP_011520570.1:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "G",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522269.1:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520571.1:p.Trp210Cys",
        "hgvsWellDefined": "XP_011520571.1:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "G",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_429476.2:n.636G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "G",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.1:n.636G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "G",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931961.1:n.636G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828165273",
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "G",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001365088.1:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352017.1:p.Trp210Cys",
        "hgvsWellDefined": "NP_001352017.1:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.630G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.630G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Trp210Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Trp210Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1790,
          "endIntronDirection": "+",
          "endIntronOffset": 1111,
          "referenceAllele": "G",
          "start": 1790,
          "startIntronDirection": "+",
          "startIntronOffset": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.4:c.543+1111G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:n.543+1111G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522269.3:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520571.1:p.Trp210Cys",
        "hgvsWellDefined": "XP_011520571.1:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1880,
          "referenceAllele": "G",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.3:n.1880G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825407702",
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.2:c.453G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Trp151Cys",
        "hgvsWellDefined": "NP_001035959.1:p.Trp151Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825408430",
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.2:c.453G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Trp151Cys",
        "hgvsWellDefined": "NP_001035960.1:p.Trp151Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676039"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409198",
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.2:c.603G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Trp201Cys",
        "hgvsWellDefined": "NP_001035961.1:p.Trp201Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676040"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409968",
      "coordinates": [
        {
          "allele": "T",
          "end": 921,
          "referenceAllele": "G",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.2:c.585G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Trp195Cys",
        "hgvsWellDefined": "NP_001035962.1:p.Trp195Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573300819",
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.2:c.630G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Trp210Cys",
        "hgvsWellDefined": "NP_598408.1:p.Trp210Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729120"
    }
  ],
  "type": "nucleotide"
}