{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA018689",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58409[alleleid]",
        "alleleId": 58409,
        "preferredName": "NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49247",
        "RCV": [
          "RCV000042506",
          "RCV002513616"
        ],
        "variationId": 49247
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2129357C>G?assembly=hg19",
        "id": "chr16:g.2129357C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2079356C>G?assembly=hg38",
        "id": "chr16:g.2079356C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/45498892",
        "rs": 45498892
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2079356,
          "referenceAllele": "C",
          "start": 2079355
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2079356C>G",
        "CM000678.2:g.2079356C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2129357,
          "referenceAllele": "C",
          "start": 2129356
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2129357C>G",
        "CM000678.1:g.2129357C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2069358,
          "referenceAllele": "C",
          "start": 2069357
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2069358C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35051,
          "referenceAllele": "C",
          "start": 35050
        }
      ],
      "hgvs": [
        "NG_005895.1:g.35051C>G",
        "LRG_487:g.35051C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3112,
          "referenceAllele": "C",
          "start": 3111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*1630C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*1630C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3244,
          "referenceAllele": "C",
          "start": 3243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.3128C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Thr1043Arg",
        "hgvsWellDefined": "ENSP00000495146.2:p.Thr1043Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3280,
          "referenceAllele": "C",
          "start": 3279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.3209C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Thr1070Arg",
        "hgvsWellDefined": "ENSP00000495459.2:p.Thr1070Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4316,
          "referenceAllele": "C",
          "start": 4315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*3661C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*3661C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4472,
          "referenceAllele": "C",
          "start": 4471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*4134C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*4134C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3322,
          "referenceAllele": "C",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Thr1071Arg",
        "hgvsWellDefined": "ENSP00000219476.3:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.3212C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.3212C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Thr1071Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Thr1071Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3287,
          "referenceAllele": "C",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Thr1071Arg",
        "hgvsWellDefined": "ENSP00000344383.4:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3186,
          "referenceAllele": "C",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.3080C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Thr1027Arg",
        "hgvsWellDefined": "ENSP00000384468.2:p.Thr1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "referenceAllele": "C",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000471143.6:c.440C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458541.2:n.440C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.3113C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Thr1038Arg",
        "hgvsWellDefined": "ENSP00000454487.1:p.Thr1038Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.1866C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3135,
          "referenceAllele": "C",
          "start": 3134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Thr1028Arg",
        "hgvsWellDefined": "ENSP00000495099.1:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3137,
          "referenceAllele": "C",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Thr1028Arg",
        "hgvsWellDefined": "ENSP00000493846.1:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3189,
          "referenceAllele": "C",
          "start": 3188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.3080C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Thr1027Arg",
        "hgvsWellDefined": "ENSP00000494514.1:p.Thr1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3198,
          "referenceAllele": "C",
          "start": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.3080C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Thr1027Arg",
        "hgvsWellDefined": "ENSP00000494747.1:p.Thr1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3330,
          "referenceAllele": "C",
          "start": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Thr1071Arg",
        "hgvsWellDefined": "ENSP00000495927.1:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3137,
          "referenceAllele": "C",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Thr1028Arg",
        "hgvsWellDefined": "ENSP00000496262.1:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3142,
          "referenceAllele": "C",
          "start": 3141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.3080C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Thr1027Arg",
        "hgvsWellDefined": "ENSP00000496611.1:p.Thr1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3183,
          "referenceAllele": "C",
          "start": 3182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Thr1028Arg",
        "hgvsWellDefined": "ENSP00000496317.1:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3202,
          "referenceAllele": "C",
          "start": 3201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.3202C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644722.1:n.358C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1365,
          "referenceAllele": "C",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.1365C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3298,
          "referenceAllele": "C",
          "start": 3297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Thr1071Arg",
        "hgvsWellDefined": "ENSP00000495921.1:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2096,
          "referenceAllele": "C",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.2096C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.504C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3842,
          "referenceAllele": "C",
          "start": 3841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Thr1071Arg",
        "hgvsWellDefined": "ENSP00000219476.3:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3287,
          "referenceAllele": "C",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Thr1071Arg",
        "hgvsWellDefined": "ENSP00000344383.4:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3031,
          "referenceAllele": "C",
          "start": 3030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.2936C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Thr979Arg",
        "hgvsWellDefined": "ENSP00000371978.6:p.Thr979Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3186,
          "referenceAllele": "C",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.3080C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Thr1027Arg",
        "hgvsWellDefined": "ENSP00000384468.2:p.Thr1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2768,
          "referenceAllele": "C",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*2379C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*2379C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3053,
          "referenceAllele": "C",
          "start": 3052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.2972C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Thr991Arg",
        "hgvsWellDefined": "ENSP00000399232.2:p.Thr991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000471143.5:c.438C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 452,
          "referenceAllele": "C",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000483020.5:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460310.1:n.452C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322585"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "referenceAllele": "C",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.1039C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000561695.1:n.437C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568366.5:n.569C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.3113C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Thr1038Arg",
        "hgvsWellDefined": "ENSP00000454487.1:p.Thr1038Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262529",
      "coordinates": [
        {
          "allele": "G",
          "end": 3318,
          "referenceAllele": "C",
          "start": 3317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.3212C>G",
        "LRG_487t1:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Thr1071Arg",
        "hgvsWellDefined": "NP_000539.2:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825437239",
      "coordinates": [
        {
          "allele": "G",
          "end": 3186,
          "referenceAllele": "C",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.3080C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Thr1027Arg",
        "hgvsWellDefined": "NP_001070651.1:p.Thr1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825575308",
      "coordinates": [
        {
          "allele": "G",
          "end": 3318,
          "referenceAllele": "C",
          "start": 3317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Thr1071Arg",
        "hgvsWellDefined": "NP_001107854.1:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3170,
          "referenceAllele": "C",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Thr1028Arg",
        "hgvsWellDefined": "XP_005255586.2:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3170,
          "referenceAllele": "C",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Thr1028Arg",
        "hgvsWellDefined": "XP_005255588.2:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3299,
          "referenceAllele": "C",
          "start": 3298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Thr1071Arg",
        "hgvsWellDefined": "XP_011520938.1:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3296,
          "referenceAllele": "C",
          "start": 3295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.3209C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Thr1070Arg",
        "hgvsWellDefined": "XP_011520939.1:p.Thr1070Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3260,
          "referenceAllele": "C",
          "start": 3259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.3101C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Thr1034Arg",
        "hgvsWellDefined": "XP_011520940.1:p.Thr1034Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3170,
          "referenceAllele": "C",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Thr1028Arg",
        "hgvsWellDefined": "XP_011520941.1:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3167,
          "referenceAllele": "C",
          "start": 3166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.3080C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Thr1027Arg",
        "hgvsWellDefined": "XP_011520942.1:p.Thr1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3131,
          "referenceAllele": "C",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.2972C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Thr991Arg",
        "hgvsWellDefined": "XP_011520943.1:p.Thr991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262529",
      "coordinates": [
        {
          "allele": "G",
          "end": 3412,
          "referenceAllele": "C",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Thr1071Arg",
        "hgvsWellDefined": "NP_000539.2:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825437239",
      "coordinates": [
        {
          "allele": "G",
          "end": 3280,
          "referenceAllele": "C",
          "start": 3279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.3080C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Thr1027Arg",
        "hgvsWellDefined": "NP_001070651.1:p.Thr1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825575308",
      "coordinates": [
        {
          "allele": "G",
          "end": 3412,
          "referenceAllele": "C",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Thr1071Arg",
        "hgvsWellDefined": "NP_001107854.1:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022838",
      "coordinates": [
        {
          "allele": "G",
          "end": 3172,
          "referenceAllele": "C",
          "start": 3171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.2972C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Thr991Arg",
        "hgvsWellDefined": "NP_001305756.1:p.Thr991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827011830",
      "coordinates": [
        {
          "allele": "G",
          "end": 3116,
          "referenceAllele": "C",
          "start": 3115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.2936C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Thr979Arg",
        "hgvsWellDefined": "NP_001305758.1:p.Thr979Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827014329",
      "coordinates": [
        {
          "allele": "G",
          "end": 2906,
          "referenceAllele": "C",
          "start": 2905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.2480C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Thr827Arg",
        "hgvsWellDefined": "NP_001305760.1:p.Thr827Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827018618",
      "coordinates": [
        {
          "allele": "G",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.3113C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Thr1038Arg",
        "hgvsWellDefined": "NP_001305761.1:p.Thr1038Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828093035",
      "coordinates": [
        {
          "allele": "G",
          "end": 3283,
          "referenceAllele": "C",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Thr1028Arg",
        "hgvsWellDefined": "NP_001350457.1:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829978334",
      "coordinates": [
        {
          "allele": "G",
          "end": 3193,
          "referenceAllele": "C",
          "start": 3192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Thr1028Arg",
        "hgvsWellDefined": "NP_066399.2:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3170,
          "referenceAllele": "C",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Thr1028Arg",
        "hgvsWellDefined": "XP_005255588.2:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3299,
          "referenceAllele": "C",
          "start": 3298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Thr1071Arg",
        "hgvsWellDefined": "XP_011520938.1:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3296,
          "referenceAllele": "C",
          "start": 3295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.3209C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Thr1070Arg",
        "hgvsWellDefined": "XP_011520939.1:p.Thr1070Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3392,
          "referenceAllele": "C",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.3374C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Thr1125Arg",
        "hgvsWellDefined": "XP_011520940.2:p.Thr1125Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3170,
          "referenceAllele": "C",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Thr1028Arg",
        "hgvsWellDefined": "XP_011520941.1:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3167,
          "referenceAllele": "C",
          "start": 3166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.3080C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Thr1027Arg",
        "hgvsWellDefined": "XP_011520942.1:p.Thr1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3296,
          "referenceAllele": "C",
          "start": 3295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.3209C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Thr1070Arg",
        "hgvsWellDefined": "XP_016879104.1:p.Thr1070Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3167,
          "referenceAllele": "C",
          "start": 3166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.3080C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Thr1027Arg",
        "hgvsWellDefined": "XP_016879105.1:p.Thr1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3263,
          "referenceAllele": "C",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.3245C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Thr1082Arg",
        "hgvsWellDefined": "XP_016879106.1:p.Thr1082Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3386,
          "referenceAllele": "C",
          "start": 3385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.1868C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Thr623Arg",
        "hgvsWellDefined": "XP_016879107.1:p.Thr623Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3167,
          "referenceAllele": "C",
          "start": 3166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3080C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Thr1027Arg",
        "hgvsWellDefined": "XP_024306181.1:p.Thr1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262529",
      "coordinates": [
        {
          "allele": "G",
          "end": 3322,
          "referenceAllele": "C",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Thr1071Arg",
        "hgvsWellDefined": "NP_000539.2:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.3212C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.3212C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Thr1071Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Thr1071Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828413145",
      "coordinates": [
        {
          "allele": "G",
          "end": 3190,
          "referenceAllele": "C",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.3080C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Thr1027Arg",
        "hgvsWellDefined": "NP_001357333.1:p.Thr1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828419283",
      "coordinates": [
        {
          "allele": "G",
          "end": 3193,
          "referenceAllele": "C",
          "start": 3192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Thr1028Arg",
        "hgvsWellDefined": "NP_001357334.1:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825437239",
      "coordinates": [
        {
          "allele": "G",
          "end": 3190,
          "referenceAllele": "C",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3080C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Thr1027Arg",
        "hgvsWellDefined": "NP_001070651.1:p.Thr1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825575308",
      "coordinates": [
        {
          "allele": "G",
          "end": 3322,
          "referenceAllele": "C",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.3212C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Thr1071Arg",
        "hgvsWellDefined": "NP_001107854.1:p.Thr1071Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022838",
      "coordinates": [
        {
          "allele": "G",
          "end": 3082,
          "referenceAllele": "C",
          "start": 3081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.2972C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Thr991Arg",
        "hgvsWellDefined": "NP_001305756.1:p.Thr991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827011830",
      "coordinates": [
        {
          "allele": "G",
          "end": 3026,
          "referenceAllele": "C",
          "start": 3025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.2936C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Thr979Arg",
        "hgvsWellDefined": "NP_001305758.1:p.Thr979Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827014329",
      "coordinates": [
        {
          "allele": "G",
          "end": 2816,
          "referenceAllele": "C",
          "start": 2815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.2480C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Thr827Arg",
        "hgvsWellDefined": "NP_001305760.1:p.Thr827Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827018618",
      "coordinates": [
        {
          "allele": "G",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3113C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Thr1038Arg",
        "hgvsWellDefined": "NP_001305761.1:p.Thr1038Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828093035",
      "coordinates": [
        {
          "allele": "G",
          "end": 3193,
          "referenceAllele": "C",
          "start": 3192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Thr1028Arg",
        "hgvsWellDefined": "NP_001350457.1:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829978334",
      "coordinates": [
        {
          "allele": "G",
          "end": 3193,
          "referenceAllele": "C",
          "start": 3192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.3083C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Thr1028Arg",
        "hgvsWellDefined": "NP_066399.2:p.Thr1028Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}