{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1963627131",
  "communityStandardTitle": [
    "NM_004171.4(SLC1A2):c.254T= (p.Leu85=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886037943",
        "rs": 886037943
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 35315079,
          "referenceAllele": "A",
          "start": 35315078
        }
      ],
      "hgvs": [
        "NC_000011.10:g.35315079A=",
        "CM000673.2:g.35315079A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 35336626,
          "referenceAllele": "A",
          "start": 35336625
        }
      ],
      "hgvs": [
        "NC_000011.9:g.35336626A=",
        "CM000673.1:g.35336626A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 35293202,
          "referenceAllele": "A",
          "start": 35293201
        }
      ],
      "hgvs": [
        "NC_000011.8:g.35293202A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109480,
          "referenceAllele": "T",
          "start": 109479
        }
      ],
      "hgvs": [
        "NG_008727.1:g.109480T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109480,
          "referenceAllele": "T",
          "start": 109479
        }
      ],
      "hgvs": [
        "NG_008727.2:g.109480T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673507"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000278379.9:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278379.3:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278379.9:c.254T="
          },
          "RefSeq": {
            "hgvs": "NM_004171.4:c.254T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278379.3:p.Leu85="
          },
          "RefSeq": {
            "hgvs": "NP_004162.2:p.Leu85="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "T",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000395750.6:c.242T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379099.2:p.Leu81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "T",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000395753.6:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379102.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 340,
          "referenceAllele": "T",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000449068.2:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406133.2:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000531628.2:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436029.2:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "T",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000606205.6:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476124.2:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "T",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000642171.1:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495538.1:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "T",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000642183.1:n.516T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "T",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000642224.1:n.543T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2527,
          "referenceAllele": "T",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000642392.1:n.2527T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 346,
          "referenceAllele": "T",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000642448.1:n.346T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "T",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000642578.1:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494076.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 342,
          "referenceAllele": "T",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000643000.1:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495164.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 643,
          "referenceAllele": "T",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000643134.1:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495188.1:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767109"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "T",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000643154.1:n.834T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 841,
          "referenceAllele": "T",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000643305.1:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494828.1:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "T",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000643454.1:c.245T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495126.1:p.Leu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "T",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000643522.1:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496375.1:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "T",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000644050.1:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496123.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "T",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000644299.1:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494669.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 842,
          "referenceAllele": "T",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000644351.1:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496587.1:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000644459.1:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495861.1:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "T",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000644779.1:c.365T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494258.1:p.Leu122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "referenceAllele": "T",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000644868.1:c.245T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496760.1:p.Leu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 298,
          "referenceAllele": "T",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000645194.1:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496093.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "T",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000645303.1:c.269T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496667.1:p.Leu90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "T",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000645634.1:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493945.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102,
          "referenceAllele": "T",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000645659.1:n.102T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 359,
          "referenceAllele": "T",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000645892.1:n.359T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "T",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000646080.1:c.245T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494113.1:p.Leu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000646099.1:c.242T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495799.1:p.Leu81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 336,
          "referenceAllele": "T",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000646112.1:n.336T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "T",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000646167.1:c.104T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495246.1:p.Leu35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "referenceAllele": "T",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000646585.1:n.409T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 413,
          "referenceAllele": "T",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000646847.1:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493924.1:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "referenceAllele": "T",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000647104.1:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494025.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 342,
          "referenceAllele": "T",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000647372.1:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495277.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "T",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000278379.7:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278379.3:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "T",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000395750.5:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379099.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "T",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000395753.5:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379102.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 328,
          "referenceAllele": "T",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000449068.1:c.242T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406133.1:p.Leu81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "ENST00000606205.5:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476124.1:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "referenceAllele": "T",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "NM_001195728.2:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182657.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "T",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "NM_001252652.1:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001239581.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018920"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078265279",
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "NM_004171.3:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "NP_004162.2:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "T",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "XM_005253067.1:c.245T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253124.1:p.Leu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "T",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "XM_011520284.1:c.302T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518586.1:p.Leu101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 328,
          "referenceAllele": "T",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "XM_011520285.1:c.242T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518587.1:p.Leu81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "T",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "XM_011520286.1:c.302T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518588.1:p.Leu101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "T",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "XM_011520287.1:c.302T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518589.1:p.Leu101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "T",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "XM_011520285.2:c.242T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518587.1:p.Leu81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "T",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "XM_017018136.1:c.269T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873625.1:p.Leu90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "referenceAllele": "T",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "XM_017018137.1:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873626.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "T",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "XM_017018138.1:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873627.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "T",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "XM_017018139.1:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873628.1:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078265279",
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "NM_004171.4:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "NP_004162.2:p.Leu85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666346",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278379.9:c.254T="
          },
          "RefSeq": {
            "hgvs": "NM_004171.4:c.254T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278379.3:p.Leu85="
          },
          "RefSeq": {
            "hgvs": "NP_004162.2:p.Leu85="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "T",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "NM_001195728.3:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182657.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010940",
      "geneNCBI_id": 6506,
      "geneSymbol": "SLC1A2",
      "hgvs": [
        "NM_001252652.2:c.227T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001239581.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680423"
    }
  ],
  "type": "nucleotide"
}