{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7463883",
  "communityStandardTitle": [
    "NM_001365088.1(SLC12A6):c.3228-15T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=338496[alleleid]",
        "alleleId": 338496,
        "preferredName": "NM_001365088.1(SLC12A6):c.3228-15T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/315607",
        "RCV": [
          "RCV000396807",
          "RCV002056451"
        ],
        "variationId": 315607
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-34527530-A-G",
        "id": "15-34527530-A-G",
        "variant": "15:34527530 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34527530A>G?assembly=hg19",
        "id": "chr15:g.34527530A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34235329A>G?assembly=hg38",
        "id": "chr15:g.34235329A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376575991",
        "rs": 376575991
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34527530-A-G?dataset=gnomad_r2_1",
        "id": "15-34527530-A-G",
        "variant": "15:34527530 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34235329-A-G?dataset=gnomad_r3",
        "id": "15-34235329-A-G",
        "variant": "15:34235329 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34235329-A-G?dataset=gnomad_r4",
        "id": "15-34235329-A-G",
        "variant": "15:34235329 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 34235329,
          "referenceAllele": "A",
          "start": 34235328
        }
      ],
      "hgvs": [
        "NC_000015.10:g.34235329A>G",
        "CM000677.2:g.34235329A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 34527530,
          "referenceAllele": "A",
          "start": 34527529
        }
      ],
      "hgvs": [
        "NC_000015.9:g.34527530A>G",
        "CM000677.1:g.34527530A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 32314822,
          "referenceAllele": "A",
          "start": 32314821
        }
      ],
      "hgvs": [
        "NC_000015.8:g.32314822A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107736,
          "referenceAllele": "T",
          "start": 107735
        }
      ],
      "hgvs": [
        "NG_007951.1:g.107736T>C",
        "LRG_270:g.107736T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3749,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3749,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.8:c.3228-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:n.3228-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.3228-15T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.3228-15T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:n.3228-15T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:n.3228-15T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4009,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 4009,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000676379.1:c.3228-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502539.1:n.3228-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3175,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3175,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000290209.9:c.3075-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290209.5:n.3075-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3720,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3720,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.7:c.3228-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:n.3228-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3248,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3248,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397702.6:c.3051-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380814.2:n.3051-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3346,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3346,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397707.6:c.3183-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380819.2:n.3183-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3577,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3577,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000458406.6:c.3051-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387725.2:n.3051-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3640,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3640,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558589.5:c.3201-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452776.1:n.3201-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3330,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3330,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558667.5:c.3228-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453473.1:n.3228-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3606,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3606,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559523.5:c.*251-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452904.1:n.*251-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4263,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 4263,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559664.5:c.*437-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453702.1:n.*437-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2899,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 2899,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560164.5:c.2664-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452705.1:n.2664-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3391,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3391,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560611.5:c.3228-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454168.1:n.3228-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4563,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 4563,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000561080.5:c.*466-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454069.1:n.*466-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3577,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3577,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.1:c.3051-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:n.3051-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3252,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3252,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.1:c.3051-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:n.3051-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3643,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3643,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.1:c.3201-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:n.3201-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3346,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3346,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.1:c.3183-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:n.3183-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009726"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3216,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3216,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_005135.2:c.3075-15T>C",
        "LRG_270t1:c.3075-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005126.1:n.3075-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3391,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3391,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.1:c.3228-15T>C",
        "LRG_270t2:c.3228-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:n.3228-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3086,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3086,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.2:c.3081-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:n.3081-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3707,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3707,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522267.1:c.3228-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520569.1:n.3228-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3396,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3396,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522268.1:c.3228-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520570.1:n.3228-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3233,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3233,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_429476.2:n.3234-15T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3749,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3749,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001365088.1:c.3228-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352017.1:n.3228-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.3228-15T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.3228-15T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:n.3228-15T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:n.3228-15T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4327,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 4327,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.4:c.3081-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:n.3081-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4506,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 4506,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.3:n.4507-15T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3598,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3598,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.2:c.3051-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:n.3051-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3245,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3245,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.2:c.3051-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:n.3051-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3664,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3664,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.2:c.3201-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:n.3201-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3518,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3518,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.2:c.3183-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:n.3183-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676041"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3563,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 3563,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.2:c.3228-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:n.3228-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729120"
    }
  ],
  "type": "nucleotide"
}