{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041719",
  "communityStandardTitle": [
    "NM_001365088.1(SLC12A6):c.2632+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358284[alleleid]",
        "alleleId": 358284,
        "preferredName": "NM_001365088.1(SLC12A6):c.2632+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370994",
        "RCV": [
          "RCV000412124"
        ],
        "variationId": 370994
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34531165C>T?assembly=hg19",
        "id": "chr15:g.34531165C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34238964C>T?assembly=hg38",
        "id": "chr15:g.34238964C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516925",
        "rs": 1057516925
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 34238964,
          "referenceAllele": "C",
          "start": 34238963
        }
      ],
      "hgvs": [
        "NC_000015.10:g.34238964C>T",
        "CM000677.2:g.34238964C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 34531165,
          "referenceAllele": "C",
          "start": 34531164
        }
      ],
      "hgvs": [
        "NC_000015.9:g.34531165C>T",
        "CM000677.1:g.34531165C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 32318457,
          "referenceAllele": "C",
          "start": 32318456
        }
      ],
      "hgvs": [
        "NC_000015.8:g.32318457C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104101,
          "referenceAllele": "G",
          "start": 104100
        }
      ],
      "hgvs": [
        "NG_007951.1:g.104101G>A",
        "LRG_270:g.104101G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3154,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3154,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.8:c.2632+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:n.2632+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.2632+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.2632+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:n.2632+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:n.2632+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3414,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3414,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000676379.1:c.2632+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502539.1:n.2632+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2580,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2580,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000290209.9:c.2479+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290209.5:n.2479+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253627"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3125,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3125,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.7:c.2632+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:n.2632+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2653,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2653,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397702.6:c.2455+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380814.2:n.2455+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2751,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2751,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397707.6:c.2587+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380819.2:n.2587+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2982,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2982,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000458406.6:c.2455+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387725.2:n.2455+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3045,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3045,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558589.5:c.2605+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452776.1:n.2605+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2735,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2735,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558667.5:c.2632+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453473.1:n.2632+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 580,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558950.1:n.580+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2982,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2982,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559523.5:c.2455+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452904.1:n.2455+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3738,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3738,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559664.5:c.2632+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453702.1:n.2632+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2304,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2304,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560164.5:c.2068+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452705.1:n.2068+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2796,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2796,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560611.5:c.2632+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454168.1:n.2632+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000561080.5:c.2632+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454069.1:n.2632+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2982,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2982,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.1:c.2455+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:n.2455+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2657,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2657,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.1:c.2455+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:n.2455+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3048,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3048,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.1:c.2605+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:n.2605+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2751,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2751,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.1:c.2587+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:n.2587+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2621,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2621,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_005135.2:c.2479+1G>A",
        "LRG_270t1:c.2479+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005126.1:n.2479+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2796,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2796,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.1:c.2632+1G>A",
        "LRG_270t2:c.2632+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:n.2632+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2491,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2491,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.2:c.2485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:n.2485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3112,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3112,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522267.1:c.2632+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520569.1:n.2632+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2801,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2801,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522268.1:c.2632+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520570.1:n.2632+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2638,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2638,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_429476.2:n.2638+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2638,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2638,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.1:n.2638+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3154,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3154,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001365088.1:c.2632+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352017.1:n.2632+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.2632+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.2632+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:n.2632+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:n.2632+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3732,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3732,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.4:c.2485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:n.2485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3882,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3882,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.3:n.3882+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3003,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3003,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.2:c.2455+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:n.2455+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2650,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2650,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.2:c.2455+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:n.2455+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3069,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3069,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.2:c.2605+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:n.2605+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2923,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2923,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.2:c.2587+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:n.2587+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2968,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2968,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.2:c.2632+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:n.2632+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729120"
    }
  ],
  "type": "nucleotide"
}