{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA033300",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.1751C>T (p.Thr584Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203124[alleleid]",
        "alleleId": 203124,
        "preferredName": "NM_000548.5(TSC2):c.1751C>T (p.Thr584Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207663",
        "RCV": [
          "RCV000644256",
          "RCV001012959",
          "RCV001705065",
          "RCV003996865"
        ],
        "variationId": 207663
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-2120491-C-T",
        "id": "16-2120491-C-T",
        "variant": "16:2120491 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2120491C>T?assembly=hg19",
        "id": "chr16:g.2120491C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2070490C>T?assembly=hg38",
        "id": "chr16:g.2070490C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751147419",
        "rs": 751147419
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2120491-C-T?dataset=gnomad_r2_1",
        "id": "16-2120491-C-T",
        "variant": "16:2120491 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2070490-C-T?dataset=gnomad_r3",
        "id": "16-2070490-C-T",
        "variant": "16:2070490 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2070490-C-T?dataset=gnomad_r4",
        "id": "16-2070490-C-T",
        "variant": "16:2070490 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2070490,
          "referenceAllele": "C",
          "start": 2070489
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2070490C>T",
        "CM000678.2:g.2070490C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2120491,
          "referenceAllele": "C",
          "start": 2120490
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2120491C>T",
        "CM000678.1:g.2120491C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2060492,
          "referenceAllele": "C",
          "start": 2060491
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2060492C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26185,
          "referenceAllele": "C",
          "start": 26184
        }
      ],
      "hgvs": [
        "NG_005895.1:g.26185C>T",
        "LRG_487:g.26185C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "referenceAllele": "C",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*298C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*298C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1912,
          "referenceAllele": "C",
          "start": 1911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Thr599Met",
        "hgvsWellDefined": "ENSP00000495146.2:p.Thr599Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1822,
          "referenceAllele": "C",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000495459.2:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1843,
          "referenceAllele": "C",
          "start": 1842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*1188C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*1188C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*1356C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000219476.3:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.1751C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.1751C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Thr584Met"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Thr584Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1826,
          "referenceAllele": "C",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000344383.4:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1857,
          "referenceAllele": "C",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000384468.2:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "referenceAllele": "C",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Thr595Met",
        "hgvsWellDefined": "ENSP00000454487.1:p.Thr595Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408,
          "referenceAllele": "C",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.408C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000495099.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1805,
          "referenceAllele": "C",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000493846.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1860,
          "referenceAllele": "C",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000494514.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1869,
          "referenceAllele": "C",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000494747.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2050,
          "referenceAllele": "C",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643298.1:c.*1253C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494393.1:n.*1253C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1869,
          "referenceAllele": "C",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000495927.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1805,
          "referenceAllele": "C",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000496262.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2082,
          "referenceAllele": "C",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644135.1:c.*251C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495644.1:n.*251C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1813,
          "referenceAllele": "C",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000496611.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1851,
          "referenceAllele": "C",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000496317.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.1744C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644847.1:n.743C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 31,
          "referenceAllele": "C",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645552.1:n.31C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1837,
          "referenceAllele": "C",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000495921.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "C",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.764C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2381,
          "referenceAllele": "C",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000219476.3:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1826,
          "referenceAllele": "C",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000344383.4:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.1604C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Thr535Met",
        "hgvsWellDefined": "ENSP00000371978.6:p.Thr535Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1857,
          "referenceAllele": "C",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Thr584Met",
        "hgvsWellDefined": "ENSP00000384468.2:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "referenceAllele": "C",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*1050C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*1050C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1721,
          "referenceAllele": "C",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.1640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Thr547Met",
        "hgvsWellDefined": "ENSP00000399232.2:p.Thr547Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000488675.5:n.258C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "C",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000562474.1:n.476C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "referenceAllele": "C",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Thr595Met",
        "hgvsWellDefined": "ENSP00000454487.1:p.Thr595Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.5:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.1:n.391C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380873"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319354",
      "coordinates": [
        {
          "allele": "T",
          "end": 1857,
          "referenceAllele": "C",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.1751C>T",
        "LRG_487t1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Thr584Met",
        "hgvsWellDefined": "NP_000539.2:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825435806",
      "coordinates": [
        {
          "allele": "T",
          "end": 1857,
          "referenceAllele": "C",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Thr584Met",
        "hgvsWellDefined": "NP_001070651.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825573732",
      "coordinates": [
        {
          "allele": "T",
          "end": 1857,
          "referenceAllele": "C",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Thr584Met",
        "hgvsWellDefined": "NP_001107854.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Thr584Met",
        "hgvsWellDefined": "XP_005255586.2:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Thr584Met",
        "hgvsWellDefined": "XP_005255588.2:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Thr584Met",
        "hgvsWellDefined": "XP_011520938.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Thr584Met",
        "hgvsWellDefined": "XP_011520939.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1799,
          "referenceAllele": "C",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.1640C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Thr547Met",
        "hgvsWellDefined": "XP_011520940.1:p.Thr547Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Thr584Met",
        "hgvsWellDefined": "XP_011520941.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Thr584Met",
        "hgvsWellDefined": "XP_011520942.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1799,
          "referenceAllele": "C",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.1640C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Thr547Met",
        "hgvsWellDefined": "XP_011520943.1:p.Thr547Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319354",
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Thr584Met",
        "hgvsWellDefined": "NP_000539.2:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825435806",
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Thr584Met",
        "hgvsWellDefined": "NP_001070651.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825573732",
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Thr584Met",
        "hgvsWellDefined": "NP_001107854.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827001684",
      "coordinates": [
        {
          "allele": "T",
          "end": 1840,
          "referenceAllele": "C",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.1640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Thr547Met",
        "hgvsWellDefined": "NP_001305756.1:p.Thr547Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827011206",
      "coordinates": [
        {
          "allele": "T",
          "end": 1784,
          "referenceAllele": "C",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.1604C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Thr535Met",
        "hgvsWellDefined": "NP_001305758.1:p.Thr535Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827012790",
      "coordinates": [
        {
          "allele": "T",
          "end": 1577,
          "referenceAllele": "C",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.1151C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Thr384Met",
        "hgvsWellDefined": "NP_001305760.1:p.Thr384Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916023617",
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "referenceAllele": "C",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Thr595Met",
        "hgvsWellDefined": "NP_001305761.1:p.Thr595Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828091490",
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Thr584Met",
        "hgvsWellDefined": "NP_001350457.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829974137",
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Thr584Met",
        "hgvsWellDefined": "NP_066399.2:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Thr584Met",
        "hgvsWellDefined": "XP_005255588.2:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Thr584Met",
        "hgvsWellDefined": "XP_011520938.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Thr584Met",
        "hgvsWellDefined": "XP_011520939.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1931,
          "referenceAllele": "C",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.1913C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Thr638Met",
        "hgvsWellDefined": "XP_011520940.2:p.Thr638Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Thr584Met",
        "hgvsWellDefined": "XP_011520941.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Thr584Met",
        "hgvsWellDefined": "XP_011520942.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Thr584Met",
        "hgvsWellDefined": "XP_016879104.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Thr584Met",
        "hgvsWellDefined": "XP_016879105.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1931,
          "referenceAllele": "C",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.1913C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Thr638Met",
        "hgvsWellDefined": "XP_016879106.1:p.Thr638Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1925,
          "referenceAllele": "C",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.407C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Thr136Met",
        "hgvsWellDefined": "XP_016879107.1:p.Thr136Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Thr584Met",
        "hgvsWellDefined": "XP_024306181.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319354",
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Thr584Met",
        "hgvsWellDefined": "NP_000539.2:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.1751C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.1751C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Thr584Met"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Thr584Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828411603",
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Thr584Met",
        "hgvsWellDefined": "NP_001357333.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828417741",
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Thr584Met",
        "hgvsWellDefined": "NP_001357334.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825435806",
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Thr584Met",
        "hgvsWellDefined": "NP_001070651.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825573732",
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Thr584Met",
        "hgvsWellDefined": "NP_001107854.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827001684",
      "coordinates": [
        {
          "allele": "T",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.1640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Thr547Met",
        "hgvsWellDefined": "NP_001305756.1:p.Thr547Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827011206",
      "coordinates": [
        {
          "allele": "T",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.1604C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Thr535Met",
        "hgvsWellDefined": "NP_001305758.1:p.Thr535Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827012790",
      "coordinates": [
        {
          "allele": "T",
          "end": 1487,
          "referenceAllele": "C",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.1151C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Thr384Met",
        "hgvsWellDefined": "NP_001305760.1:p.Thr384Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916023617",
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "referenceAllele": "C",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Thr595Met",
        "hgvsWellDefined": "NP_001305761.1:p.Thr595Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828091490",
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Thr584Met",
        "hgvsWellDefined": "NP_001350457.1:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829974137",
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Thr584Met",
        "hgvsWellDefined": "NP_066399.2:p.Thr584Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}