{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA019949",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58718[alleleid]",
        "alleleId": 58718,
        "preferredName": "NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49556",
        "RCV": [
          "RCV000042816",
          "RCV000565844",
          "RCV000726579",
          "RCV001082851",
          "RCV004541222",
          "RCV003488361"
        ],
        "variationId": 49556
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-2134328-C-T",
        "id": "16-2134328-C-T",
        "variant": "16:2134328 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2134328C>T?assembly=hg19",
        "id": "chr16:g.2134328C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2084327C>T?assembly=hg38",
        "id": "chr16:g.2084327C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/45517328",
        "rs": 45517328
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2134328-C-T?dataset=gnomad_r2_1",
        "id": "16-2134328-C-T",
        "variant": "16:2134328 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2084327-C-T?dataset=gnomad_r3",
        "id": "16-2084327-C-T",
        "variant": "16:2084327 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2084327-C-T?dataset=gnomad_r4",
        "id": "16-2084327-C-T",
        "variant": "16:2084327 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2084327,
          "referenceAllele": "C",
          "start": 2084326
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2084327C>T",
        "CM000678.2:g.2084327C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2134328,
          "referenceAllele": "C",
          "start": 2134327
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2134328C>T",
        "CM000678.1:g.2134328C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2074329,
          "referenceAllele": "C",
          "start": 2074328
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2074329C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40022,
          "referenceAllele": "C",
          "start": 40021
        }
      ],
      "hgvs": [
        "NG_005895.1:g.40022C>T",
        "LRG_487:g.40022C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3936,
          "referenceAllele": "C",
          "start": 3935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*2454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*2454C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4068,
          "referenceAllele": "C",
          "start": 4067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.3952C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Arg1318Trp",
        "hgvsWellDefined": "ENSP00000495146.2:p.Arg1318Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4173,
          "referenceAllele": "C",
          "start": 4172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.4102C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Arg1368Trp",
        "hgvsWellDefined": "ENSP00000495459.2:p.Arg1368Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5140,
          "referenceAllele": "C",
          "start": 5139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*4485C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*4485C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7192,
          "referenceAllele": "C",
          "start": 7191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*6854C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*6854C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4215,
          "referenceAllele": "C",
          "start": 4214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.4105C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Arg1369Trp",
        "hgvsWellDefined": "ENSP00000219476.3:p.Arg1369Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4105C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4105C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Arg1369Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Arg1369Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4111,
          "referenceAllele": "C",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.4036C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Arg1346Trp",
        "hgvsWellDefined": "ENSP00000344383.4:p.Arg1346Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4010,
          "referenceAllele": "C",
          "start": 4009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.3904C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Arg1302Trp",
        "hgvsWellDefined": "ENSP00000384468.2:p.Arg1302Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4005,
          "referenceAllele": "C",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.3937C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Arg1313Trp",
        "hgvsWellDefined": "ENSP00000454487.1:p.Arg1313Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.341C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1987,
          "referenceAllele": "C",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.1987C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2759,
          "referenceAllele": "C",
          "start": 2758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.2759C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4028,
          "referenceAllele": "C",
          "start": 4027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.3976C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Arg1326Trp",
        "hgvsWellDefined": "ENSP00000495099.1:p.Arg1326Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642728.1:n.287C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3961,
          "referenceAllele": "C",
          "start": 3960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.3907C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Arg1303Trp",
        "hgvsWellDefined": "ENSP00000493846.1:p.Arg1303Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4082,
          "referenceAllele": "C",
          "start": 4081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.3973C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Arg1325Trp",
        "hgvsWellDefined": "ENSP00000494514.1:p.Arg1325Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4022,
          "referenceAllele": "C",
          "start": 4021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.3904C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Arg1302Trp",
        "hgvsWellDefined": "ENSP00000494747.1:p.Arg1302Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "C",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643177.1:n.119C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1753,
          "referenceAllele": "C",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.1753C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4154,
          "referenceAllele": "C",
          "start": 4153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.4036C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Arg1346Trp",
        "hgvsWellDefined": "ENSP00000495927.1:p.Arg1346Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4030,
          "referenceAllele": "C",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.3976C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Arg1326Trp",
        "hgvsWellDefined": "ENSP00000496262.1:p.Arg1326Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3966,
          "referenceAllele": "C",
          "start": 3965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.3904C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Arg1302Trp",
        "hgvsWellDefined": "ENSP00000496611.1:p.Arg1302Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4007,
          "referenceAllele": "C",
          "start": 4006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.3907C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Arg1303Trp",
        "hgvsWellDefined": "ENSP00000496317.1:p.Arg1303Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4026,
          "referenceAllele": "C",
          "start": 4025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.4026C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2189,
          "referenceAllele": "C",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.2189C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "C",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645186.1:c.348C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4191,
          "referenceAllele": "C",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.4105C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Arg1369Trp",
        "hgvsWellDefined": "ENSP00000495921.1:p.Arg1369Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2920,
          "referenceAllele": "C",
          "start": 2919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.2920C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1357,
          "referenceAllele": "C",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.1357C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "referenceAllele": "C",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.1328C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.1218C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4735,
          "referenceAllele": "C",
          "start": 4734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.4105C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Arg1369Trp",
        "hgvsWellDefined": "ENSP00000219476.3:p.Arg1369Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4111,
          "referenceAllele": "C",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.4036C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Arg1346Trp",
        "hgvsWellDefined": "ENSP00000344383.4:p.Arg1346Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3855,
          "referenceAllele": "C",
          "start": 3854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.3760C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Arg1254Trp",
        "hgvsWellDefined": "ENSP00000371978.6:p.Arg1254Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4010,
          "referenceAllele": "C",
          "start": 4009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.3904C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Arg1302Trp",
        "hgvsWellDefined": "ENSP00000384468.2:p.Arg1302Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3661,
          "referenceAllele": "C",
          "start": 3660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*3272C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*3272C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3877,
          "referenceAllele": "C",
          "start": 3876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.3796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Arg1266Trp",
        "hgvsWellDefined": "ENSP00000399232.2:p.Arg1266Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1863,
          "referenceAllele": "C",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.1863C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4005,
          "referenceAllele": "C",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.3937C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Arg1313Trp",
        "hgvsWellDefined": "ENSP00000454487.1:p.Arg1313Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.287C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "referenceAllele": "C",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.1220C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262763",
      "coordinates": [
        {
          "allele": "T",
          "end": 4211,
          "referenceAllele": "C",
          "start": 4210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.4105C>T",
        "LRG_487t1:c.4105C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Arg1369Trp",
        "hgvsWellDefined": "NP_000539.2:p.Arg1369Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825438207",
      "coordinates": [
        {
          "allele": "T",
          "end": 4010,
          "referenceAllele": "C",
          "start": 4009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.3904C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Arg1302Trp",
        "hgvsWellDefined": "NP_001070651.1:p.Arg1302Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825576221",
      "coordinates": [
        {
          "allele": "T",
          "end": 4142,
          "referenceAllele": "C",
          "start": 4141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.4036C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Arg1346Trp",
        "hgvsWellDefined": "NP_001107854.1:p.Arg1346Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4063,
          "referenceAllele": "C",
          "start": 4062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.3976C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Arg1326Trp",
        "hgvsWellDefined": "XP_005255586.2:p.Arg1326Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3994,
          "referenceAllele": "C",
          "start": 3993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.3907C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Arg1303Trp",
        "hgvsWellDefined": "XP_005255588.2:p.Arg1303Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4246,
          "referenceAllele": "C",
          "start": 4245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.4159C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Arg1387Trp",
        "hgvsWellDefined": "XP_011520938.1:p.Arg1387Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4243,
          "referenceAllele": "C",
          "start": 4242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.4156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Arg1386Trp",
        "hgvsWellDefined": "XP_011520939.1:p.Arg1386Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4207,
          "referenceAllele": "C",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.4048C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Arg1350Trp",
        "hgvsWellDefined": "XP_011520940.1:p.Arg1350Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4117,
          "referenceAllele": "C",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.4030C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Arg1344Trp",
        "hgvsWellDefined": "XP_011520941.1:p.Arg1344Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4114,
          "referenceAllele": "C",
          "start": 4113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.4027C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Arg1343Trp",
        "hgvsWellDefined": "XP_011520942.1:p.Arg1343Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3955,
          "referenceAllele": "C",
          "start": 3954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.3796C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Arg1266Trp",
        "hgvsWellDefined": "XP_011520943.1:p.Arg1266Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262763",
      "coordinates": [
        {
          "allele": "T",
          "end": 4305,
          "referenceAllele": "C",
          "start": 4304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.4105C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Arg1369Trp",
        "hgvsWellDefined": "NP_000539.2:p.Arg1369Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825438207",
      "coordinates": [
        {
          "allele": "T",
          "end": 4104,
          "referenceAllele": "C",
          "start": 4103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.3904C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Arg1302Trp",
        "hgvsWellDefined": "NP_001070651.1:p.Arg1302Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825576221",
      "coordinates": [
        {
          "allele": "T",
          "end": 4236,
          "referenceAllele": "C",
          "start": 4235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.4036C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Arg1346Trp",
        "hgvsWellDefined": "NP_001107854.1:p.Arg1346Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827004131",
      "coordinates": [
        {
          "allele": "T",
          "end": 3996,
          "referenceAllele": "C",
          "start": 3995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.3796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Arg1266Trp",
        "hgvsWellDefined": "NP_001305756.1:p.Arg1266Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827009245",
      "coordinates": [
        {
          "allele": "T",
          "end": 3940,
          "referenceAllele": "C",
          "start": 3939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.3760C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Arg1254Trp",
        "hgvsWellDefined": "NP_001305758.1:p.Arg1254Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827015074",
      "coordinates": [
        {
          "allele": "T",
          "end": 3799,
          "referenceAllele": "C",
          "start": 3798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.3373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Arg1125Trp",
        "hgvsWellDefined": "NP_001305760.1:p.Arg1125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827019588",
      "coordinates": [
        {
          "allele": "T",
          "end": 4005,
          "referenceAllele": "C",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.3937C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Arg1313Trp",
        "hgvsWellDefined": "NP_001305761.1:p.Arg1313Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828094000",
      "coordinates": [
        {
          "allele": "T",
          "end": 4107,
          "referenceAllele": "C",
          "start": 4106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.3907C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Arg1303Trp",
        "hgvsWellDefined": "NP_001350457.1:p.Arg1303Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829980418",
      "coordinates": [
        {
          "allele": "T",
          "end": 4086,
          "referenceAllele": "C",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.3976C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Arg1326Trp",
        "hgvsWellDefined": "NP_066399.2:p.Arg1326Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3994,
          "referenceAllele": "C",
          "start": 3993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.3907C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Arg1303Trp",
        "hgvsWellDefined": "XP_005255588.2:p.Arg1303Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4246,
          "referenceAllele": "C",
          "start": 4245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.4159C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Arg1387Trp",
        "hgvsWellDefined": "XP_011520938.1:p.Arg1387Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4243,
          "referenceAllele": "C",
          "start": 4242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.4156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Arg1386Trp",
        "hgvsWellDefined": "XP_011520939.1:p.Arg1386Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4339,
          "referenceAllele": "C",
          "start": 4338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.4321C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Arg1441Trp",
        "hgvsWellDefined": "XP_011520940.2:p.Arg1441Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4117,
          "referenceAllele": "C",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.4030C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Arg1344Trp",
        "hgvsWellDefined": "XP_011520941.1:p.Arg1344Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4114,
          "referenceAllele": "C",
          "start": 4113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.4027C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Arg1343Trp",
        "hgvsWellDefined": "XP_011520942.1:p.Arg1343Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4189,
          "referenceAllele": "C",
          "start": 4188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.4102C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Arg1368Trp",
        "hgvsWellDefined": "XP_016879104.1:p.Arg1368Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4060,
          "referenceAllele": "C",
          "start": 4059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.3973C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Arg1325Trp",
        "hgvsWellDefined": "XP_016879105.1:p.Arg1325Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4087,
          "referenceAllele": "C",
          "start": 4086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.4069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Arg1357Trp",
        "hgvsWellDefined": "XP_016879106.1:p.Arg1357Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4333,
          "referenceAllele": "C",
          "start": 4332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Arg939Trp",
        "hgvsWellDefined": "XP_016879107.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3991,
          "referenceAllele": "C",
          "start": 3990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3904C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Arg1302Trp",
        "hgvsWellDefined": "XP_024306181.1:p.Arg1302Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262763",
      "coordinates": [
        {
          "allele": "T",
          "end": 4215,
          "referenceAllele": "C",
          "start": 4214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.4105C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Arg1369Trp",
        "hgvsWellDefined": "NP_000539.2:p.Arg1369Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4105C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4105C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Arg1369Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Arg1369Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828414177",
      "coordinates": [
        {
          "allele": "T",
          "end": 4083,
          "referenceAllele": "C",
          "start": 4082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.3973C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Arg1325Trp",
        "hgvsWellDefined": "NP_001357333.1:p.Arg1325Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828420317",
      "coordinates": [
        {
          "allele": "T",
          "end": 4086,
          "referenceAllele": "C",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.3976C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Arg1326Trp",
        "hgvsWellDefined": "NP_001357334.1:p.Arg1326Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825438207",
      "coordinates": [
        {
          "allele": "T",
          "end": 4014,
          "referenceAllele": "C",
          "start": 4013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3904C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Arg1302Trp",
        "hgvsWellDefined": "NP_001070651.1:p.Arg1302Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825576221",
      "coordinates": [
        {
          "allele": "T",
          "end": 4146,
          "referenceAllele": "C",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.4036C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Arg1346Trp",
        "hgvsWellDefined": "NP_001107854.1:p.Arg1346Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827004131",
      "coordinates": [
        {
          "allele": "T",
          "end": 3906,
          "referenceAllele": "C",
          "start": 3905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Arg1266Trp",
        "hgvsWellDefined": "NP_001305756.1:p.Arg1266Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827009245",
      "coordinates": [
        {
          "allele": "T",
          "end": 3850,
          "referenceAllele": "C",
          "start": 3849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3760C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Arg1254Trp",
        "hgvsWellDefined": "NP_001305758.1:p.Arg1254Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827015074",
      "coordinates": [
        {
          "allele": "T",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.3373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Arg1125Trp",
        "hgvsWellDefined": "NP_001305760.1:p.Arg1125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827019588",
      "coordinates": [
        {
          "allele": "T",
          "end": 4005,
          "referenceAllele": "C",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3937C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Arg1313Trp",
        "hgvsWellDefined": "NP_001305761.1:p.Arg1313Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828094000",
      "coordinates": [
        {
          "allele": "T",
          "end": 4017,
          "referenceAllele": "C",
          "start": 4016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3907C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Arg1303Trp",
        "hgvsWellDefined": "NP_001350457.1:p.Arg1303Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829980418",
      "coordinates": [
        {
          "allele": "T",
          "end": 4086,
          "referenceAllele": "C",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.3976C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Arg1326Trp",
        "hgvsWellDefined": "NP_066399.2:p.Arg1326Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}