{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351791838",
  "communityStandardTitle": [
    "NM_003042.4(SLC6A1):c.1531G>C (p.Val511Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.11076220G>C?assembly=hg19",
        "id": "chr3:g.11076220G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.11034534G>C?assembly=hg38",
        "id": "chr3:g.11034534G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 11034534,
          "referenceAllele": "G",
          "start": 11034533
        }
      ],
      "hgvs": [
        "NC_000003.12:g.11034534G>C",
        "CM000665.2:g.11034534G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 11076220,
          "referenceAllele": "G",
          "start": 11076219
        }
      ],
      "hgvs": [
        "NC_000003.11:g.11076220G>C",
        "CM000665.1:g.11076220G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 11051220,
          "referenceAllele": "G",
          "start": 11051219
        }
      ],
      "hgvs": [
        "NC_000003.10:g.11051220G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 46806,
          "referenceAllele": "G",
          "start": 46805
        }
      ],
      "hgvs": [
        "NG_053003.1:g.46806G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617310"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1684,
          "referenceAllele": "G",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000698198.1:c.1603G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513602.1:p.Val535Leu",
        "hgvsWellDefined": "ENSP00000513602.1:p.Val535Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1928,
          "referenceAllele": "G",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000287766.10:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287766.4:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000287766.4:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743916",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287766.10:c.1531G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003042.4:c.1531G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287766.4:p.Val511Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003033.3:p.Val511Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1553,
          "referenceAllele": "G",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000495636.2:n.1553G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1685,
          "referenceAllele": "G",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000642201.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494778.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000494778.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2935,
          "referenceAllele": "G",
          "start": 2934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000642515.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496348.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000496348.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1902,
          "referenceAllele": "G",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000642639.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494191.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000494191.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766853"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2041,
          "referenceAllele": "G",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000642735.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494050.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000494050.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766902"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1887,
          "referenceAllele": "G",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000642767.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494346.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000494346.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2112,
          "referenceAllele": "G",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000642820.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495900.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000495900.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4272,
          "referenceAllele": "G",
          "start": 4271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000643396.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494136.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000494136.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000643498.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494997.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000494997.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1658,
          "referenceAllele": "G",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000644314.1:c.1171G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493813.1:p.Val391Leu",
        "hgvsWellDefined": "ENSP00000493813.1:p.Val391Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767755"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "referenceAllele": "G",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000644803.1:c.1558G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494469.1:p.Val520Leu",
        "hgvsWellDefined": "ENSP00000494469.1:p.Val520Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1971,
          "referenceAllele": "G",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645029.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496171.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000496171.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645054.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495751.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000495751.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1480,
          "referenceAllele": "G",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645281.1:c.997G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493746.1:p.Val333Leu",
        "hgvsWellDefined": "ENSP00000493746.1:p.Val333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1828,
          "referenceAllele": "G",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645575.1:c.*914G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493666.1:n.*914G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1852,
          "referenceAllele": "G",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645592.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496619.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000496619.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1535,
          "referenceAllele": "G",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645776.1:c.997G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495375.1:p.Val333Leu",
        "hgvsWellDefined": "ENSP00000495375.1:p.Val333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2231,
          "referenceAllele": "G",
          "start": 2230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645974.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496390.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000496390.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1325,
          "referenceAllele": "G",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645985.1:c.1325G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1793,
          "referenceAllele": "G",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646022.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494134.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000494134.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2122,
          "referenceAllele": "G",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646060.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496302.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000496302.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1606,
          "referenceAllele": "G",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646072.1:c.997G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494002.1:p.Val333Leu",
        "hgvsWellDefined": "ENSP00000494002.1:p.Val333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646487.1:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496768.1:p.Val370Leu",
        "hgvsWellDefined": "ENSP00000496768.1:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768902"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2237,
          "referenceAllele": "G",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646570.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496064.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000496064.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "referenceAllele": "G",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646702.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496697.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000496697.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646836.1:n.584G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769092"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3899,
          "referenceAllele": "G",
          "start": 3898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646886.1:n.3899G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2067,
          "referenceAllele": "G",
          "start": 2066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646924.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493591.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000493591.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1841,
          "referenceAllele": "G",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000647194.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496238.1:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000496238.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769282"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1159,
          "endIntronDirection": "-",
          "endIntronOffset": 3026,
          "referenceAllele": "G",
          "start": 1159,
          "startIntronDirection": "-",
          "startIntronOffset": 3027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000647384.1:c.1079-3027G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493779.1:n.1079-3027G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1952,
          "referenceAllele": "G",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000287766.8:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287766.4:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000287766.4:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000495636.1:n.507G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332296"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976078",
      "coordinates": [
        {
          "allele": "C",
          "end": 1942,
          "referenceAllele": "G",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_003042.3:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003033.3:p.Val511Leu",
        "hgvsWellDefined": "NP_003033.3:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3299,
          "referenceAllele": "G",
          "start": 3298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_005265410.3:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265467.1:p.Val511Leu",
        "hgvsWellDefined": "XP_005265467.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3238,
          "referenceAllele": "G",
          "start": 3237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_005265411.3:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265468.1:p.Val511Leu",
        "hgvsWellDefined": "XP_005265468.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1886,
          "referenceAllele": "G",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_006713306.2:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713369.1:p.Val511Leu",
        "hgvsWellDefined": "XP_006713369.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3989,
          "referenceAllele": "G",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_011534025.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532327.1:p.Val511Leu",
        "hgvsWellDefined": "XP_011532327.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3882,
          "referenceAllele": "G",
          "start": 3881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_011534026.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532328.1:p.Val511Leu",
        "hgvsWellDefined": "XP_011532328.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3928,
          "referenceAllele": "G",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_011534027.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532329.1:p.Val511Leu",
        "hgvsWellDefined": "XP_011532329.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101045"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3821,
          "referenceAllele": "G",
          "start": 3820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_011534028.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532330.1:p.Val511Leu",
        "hgvsWellDefined": "XP_011532330.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101046"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827435511",
      "coordinates": [
        {
          "allele": "C",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348250.1:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335179.1:p.Val511Leu",
        "hgvsWellDefined": "NP_001335179.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518091"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827435915",
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "referenceAllele": "G",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348251.1:c.1171G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335180.1:p.Val391Leu",
        "hgvsWellDefined": "NP_001335180.1:p.Val391Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518092"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827436329",
      "coordinates": [
        {
          "allele": "C",
          "end": 1620,
          "referenceAllele": "G",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348252.1:c.997G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335181.1:p.Val333Leu",
        "hgvsWellDefined": "NP_001335181.1:p.Val333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827436697",
      "coordinates": [
        {
          "allele": "C",
          "end": 1559,
          "referenceAllele": "G",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348253.1:c.997G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335182.1:p.Val333Leu",
        "hgvsWellDefined": "NP_001335182.1:p.Val333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3299,
          "referenceAllele": "G",
          "start": 3298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_005265410.5:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265467.1:p.Val511Leu",
        "hgvsWellDefined": "XP_005265467.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3238,
          "referenceAllele": "G",
          "start": 3237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_005265411.5:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265468.1:p.Val511Leu",
        "hgvsWellDefined": "XP_005265468.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3989,
          "referenceAllele": "G",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_011534025.3:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532327.1:p.Val511Leu",
        "hgvsWellDefined": "XP_011532327.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3928,
          "referenceAllele": "G",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_011534027.3:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532329.1:p.Val511Leu",
        "hgvsWellDefined": "XP_011532329.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2753,
          "referenceAllele": "G",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_017007071.2:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862560.1:p.Val511Leu",
        "hgvsWellDefined": "XP_016862560.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2063,
          "referenceAllele": "G",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_017007072.2:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862561.1:p.Val511Leu",
        "hgvsWellDefined": "XP_016862561.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976078",
      "coordinates": [
        {
          "allele": "C",
          "end": 1928,
          "referenceAllele": "G",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_003042.4:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003033.3:p.Val511Leu",
        "hgvsWellDefined": "NP_003033.3:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287766.10:c.1531G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003042.4:c.1531G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287766.4:p.Val511Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003033.3:p.Val511Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827435511",
      "coordinates": [
        {
          "allele": "C",
          "end": 1867,
          "referenceAllele": "G",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348250.2:c.1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335179.1:p.Val511Leu",
        "hgvsWellDefined": "NP_001335179.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827435915",
      "coordinates": [
        {
          "allele": "C",
          "end": 1677,
          "referenceAllele": "G",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348251.2:c.1171G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335180.1:p.Val391Leu",
        "hgvsWellDefined": "NP_001335180.1:p.Val391Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827436329",
      "coordinates": [
        {
          "allele": "C",
          "end": 1606,
          "referenceAllele": "G",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348252.2:c.997G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335181.1:p.Val333Leu",
        "hgvsWellDefined": "NP_001335181.1:p.Val333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827436697",
      "coordinates": [
        {
          "allele": "C",
          "end": 1545,
          "referenceAllele": "G",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348253.2:c.997G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335182.1:p.Val333Leu",
        "hgvsWellDefined": "NP_001335182.1:p.Val333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719151"
    }
  ],
  "type": "nucleotide"
}