{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA014993",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75839[alleleid]",
        "alleleId": 75839,
        "preferredName": "NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64909",
        "RCV": [
          "RCV000055110",
          "RCV001575872"
        ],
        "variationId": 64909
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2114336C>T?assembly=hg19",
        "id": "chr16:g.2114336C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2064335C>T?assembly=hg38",
        "id": "chr16:g.2064335C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514929",
        "rs": 397514929
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2064335,
          "referenceAllele": "C",
          "start": 2064334
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2064335C>T",
        "CM000678.2:g.2064335C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2114336,
          "referenceAllele": "C",
          "start": 2114335
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2114336C>T",
        "CM000678.1:g.2114336C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2054337,
          "referenceAllele": "C",
          "start": 2054336
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2054337C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20030,
          "referenceAllele": "C",
          "start": 20029
        }
      ],
      "hgvs": [
        "NG_005895.1:g.20030C>T",
        "LRG_487:g.20030C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1536,
          "referenceAllele": "C",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*54C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*54C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1668,
          "referenceAllele": "C",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Gln518Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1599,
          "referenceAllele": "C",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*944C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*944C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1450,
          "referenceAllele": "C",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*1112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*1112C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.1507C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.1507C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Gln503Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Gln503Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000463601.2:n.1635C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Gln514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.164C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1559,
          "referenceAllele": "C",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1561,
          "referenceAllele": "C",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642812.1:n.1552C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1616,
          "referenceAllele": "C",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1625,
          "referenceAllele": "C",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3517,
          "referenceAllele": "C",
          "start": 3516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643149.1:n.3517C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1806,
          "referenceAllele": "C",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643298.1:c.*1009C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494393.1:n.*1009C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1704,
          "referenceAllele": "C",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643745.1:c.*439C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495948.1:n.*439C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1625,
          "referenceAllele": "C",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1561,
          "referenceAllele": "C",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644135.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495644.1:p.Gln503Ter",
        "hgvsWellDefined": "ENSP00000495644.1:p.Gln503_Gln572delinsValArgLysLeuAlaThrGlnLeuLeuValAspLeuAlaGluGlyCysHisThrHisHisPheAsnSerLeuLeuAspIleIleGluLysValMetAlaArgSerLeuSerProProProGluLeuGluGluArgAspValAlaAlaTyrSerAlaSerLeuGluAspValLysThrAlaValLeuGlyLeuLeuValIleLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644222.1:n.1594C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1569,
          "referenceAllele": "C",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1607,
          "referenceAllele": "C",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "C",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.1500C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2681,
          "referenceAllele": "C",
          "start": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644665.1:n.2681C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "C",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644847.1:n.499C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2565,
          "referenceAllele": "C",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645591.1:n.2565C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1593,
          "referenceAllele": "C",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.520C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3265,
          "referenceAllele": "C",
          "start": 3264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647234.1:n.3265C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2143,
          "referenceAllele": "C",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647242.1:n.2143C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2137,
          "referenceAllele": "C",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.1360C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Gln454Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*806C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*806C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.1396C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Gln466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "referenceAllele": "C",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000490108.1:n.280C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568238.1:n.265C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Gln514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "C",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.5:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.1:n.147C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.1507C>T",
        "LRG_487t1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "C",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.1396C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Gln466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "C",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.1396C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Gln466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1707,
          "referenceAllele": "C",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1707,
          "referenceAllele": "C",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1707,
          "referenceAllele": "C",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1596,
          "referenceAllele": "C",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.1396C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Gln466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.1360C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Gln454Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1333,
          "referenceAllele": "C",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.907C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Gln303Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Gln514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1707,
          "referenceAllele": "C",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1687,
          "referenceAllele": "C",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.1669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Gln557Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1687,
          "referenceAllele": "C",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.1669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Gln557Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1681,
          "referenceAllele": "C",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Gln55Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.1507C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.1507C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Gln503Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Gln503Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1506,
          "referenceAllele": "C",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.1396C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Gln466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1450,
          "referenceAllele": "C",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.1360C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Gln454Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.907C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Gln303Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Gln514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Gln503Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}