{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2202043948",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.4133_4135delinsCCT (p.Pro1378=)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 2084357,
          "referenceAllele": "CCT",
          "start": 2084354
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2084355_2084357delinsCCT",
        "CM000678.2:g.2084355_2084357delinsCCT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 2134358,
          "referenceAllele": "CCT",
          "start": 2134355
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2134356_2134358delinsCCT",
        "CM000678.1:g.2134356_2134358delinsCCT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 2074359,
          "referenceAllele": "CCT",
          "start": 2074356
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2074357_2074359delinsCCT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 40052,
          "referenceAllele": "CCT",
          "start": 40049
        }
      ],
      "hgvs": [
        "NG_005895.1:g.40050_40052delinsCCT",
        "LRG_487:g.40050_40052delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 3966,
          "referenceAllele": "CCT",
          "start": 3963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*2482_*2484delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*2482_*2484delinsCCT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4098,
          "referenceAllele": "CCT",
          "start": 4095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.3980_3982delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Pro1327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4203,
          "referenceAllele": "CCT",
          "start": 4200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.4130_4132delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Pro1377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 5170,
          "referenceAllele": "CCT",
          "start": 5167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*4513_*4515delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*4513_*4515delinsCCT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 7222,
          "referenceAllele": "CCT",
          "start": 7219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*6882_*6884delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*6882_*6884delinsCCT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4245,
          "referenceAllele": "CCT",
          "start": 4242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.4133_4135delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Pro1378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4133_4135delinsCCT"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4133_4135delinsCCT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Pro1378="
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Pro1378="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4141,
          "referenceAllele": "CCT",
          "start": 4138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.4064_4066delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Pro1355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4040,
          "referenceAllele": "CCT",
          "start": 4037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.3932_3934delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Pro1311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4035,
          "referenceAllele": "CCT",
          "start": 4032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.3965_3967delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Pro1322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 371,
          "referenceAllele": "CCT",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.369_371delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 2017,
          "referenceAllele": "CCT",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.2015_2017delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 2789,
          "referenceAllele": "CCT",
          "start": 2786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.2787_2789delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4058,
          "referenceAllele": "CCT",
          "start": 4055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.4004_4006delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Pro1335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 317,
          "referenceAllele": "CCT",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642728.1:n.315_317delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766898"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 3991,
          "referenceAllele": "CCT",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.3935_3937delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Pro1312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4112,
          "referenceAllele": "CCT",
          "start": 4109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.4001_4003delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Pro1334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4052,
          "referenceAllele": "CCT",
          "start": 4049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.3932_3934delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Pro1311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 149,
          "referenceAllele": "CCT",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643177.1:n.147_149delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767136"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 1783,
          "referenceAllele": "CCT",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.1781_1783delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4184,
          "referenceAllele": "CCT",
          "start": 4181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.4064_4066delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Pro1355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4060,
          "referenceAllele": "CCT",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.4004_4006delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Pro1335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 3996,
          "referenceAllele": "CCT",
          "start": 3993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.3932_3934delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Pro1311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4037,
          "referenceAllele": "CCT",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.3935_3937delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Pro1312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4056,
          "referenceAllele": "CCT",
          "start": 4053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.4054_4056delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 2219,
          "referenceAllele": "CCT",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.2217_2219delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 378,
          "referenceAllele": "CCT",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645186.1:c.376_378delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768213"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4221,
          "referenceAllele": "CCT",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.4133_4135delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Pro1378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 2950,
          "referenceAllele": "CCT",
          "start": 2947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.2948_2950delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 1387,
          "referenceAllele": "CCT",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.1385_1387delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 1358,
          "referenceAllele": "CCT",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.1356_1358delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 1248,
          "referenceAllele": "CCT",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.1246_1248delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4765,
          "referenceAllele": "CCT",
          "start": 4762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.4133_4135delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Pro1378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4141,
          "referenceAllele": "CCT",
          "start": 4138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.4064_4066delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Pro1355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 3885,
          "referenceAllele": "CCT",
          "start": 3882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.3788_3790delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Pro1263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4040,
          "referenceAllele": "CCT",
          "start": 4037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.3932_3934delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Pro1311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 3691,
          "referenceAllele": "CCT",
          "start": 3688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*3300_*3302delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*3300_*3302delinsCCT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 3907,
          "referenceAllele": "CCT",
          "start": 3904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.3824_3826delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Pro1275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 1893,
          "referenceAllele": "CCT",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.1891_1893delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4035,
          "referenceAllele": "CCT",
          "start": 4032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.3965_3967delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Pro1322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 317,
          "referenceAllele": "CCT",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.315_317delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 1250,
          "referenceAllele": "CCT",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.1248_1250delinsCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825186602",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4241,
          "referenceAllele": "CCT",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.4133_4135delinsCCT",
        "LRG_487t1:c.4133_4135delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Pro1378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825438232",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4040,
          "referenceAllele": "CCT",
          "start": 4037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.3932_3934delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Pro1311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825576253",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4172,
          "referenceAllele": "CCT",
          "start": 4169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.4064_4066delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Pro1355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4093,
          "referenceAllele": "CCT",
          "start": 4090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.4004_4006delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Pro1335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4024,
          "referenceAllele": "CCT",
          "start": 4021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.3935_3937delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Pro1312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4276,
          "referenceAllele": "CCT",
          "start": 4273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.4187_4189delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Pro1396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4273,
          "referenceAllele": "CCT",
          "start": 4270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.4184_4186delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Pro1395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4237,
          "referenceAllele": "CCT",
          "start": 4234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.4076_4078delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Pro1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4147,
          "referenceAllele": "CCT",
          "start": 4144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.4058_4060delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Pro1353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4144,
          "referenceAllele": "CCT",
          "start": 4141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.4055_4057delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Pro1352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 3985,
          "referenceAllele": "CCT",
          "start": 3982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.3824_3826delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Pro1275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825186602",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4335,
          "referenceAllele": "CCT",
          "start": 4332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.4133_4135delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Pro1378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825438232",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4134,
          "referenceAllele": "CCT",
          "start": 4131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.3932_3934delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Pro1311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825576253",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4266,
          "referenceAllele": "CCT",
          "start": 4263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.4064_4066delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Pro1355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827004161",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4026,
          "referenceAllele": "CCT",
          "start": 4023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.3824_3826delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Pro1275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827009267",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 3970,
          "referenceAllele": "CCT",
          "start": 3967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.3788_3790delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Pro1263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827015104",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 3829,
          "referenceAllele": "CCT",
          "start": 3826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.3401_3403delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Pro1134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827019617",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4035,
          "referenceAllele": "CCT",
          "start": 4032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.3965_3967delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Pro1322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828094032",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4137,
          "referenceAllele": "CCT",
          "start": 4134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.3935_3937delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Pro1312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829980475",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4116,
          "referenceAllele": "CCT",
          "start": 4113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.4004_4006delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Pro1335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4024,
          "referenceAllele": "CCT",
          "start": 4021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.3935_3937delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Pro1312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4276,
          "referenceAllele": "CCT",
          "start": 4273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.4187_4189delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Pro1396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4273,
          "referenceAllele": "CCT",
          "start": 4270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.4184_4186delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Pro1395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4369,
          "referenceAllele": "CCT",
          "start": 4366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.4349_4351delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Pro1450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4147,
          "referenceAllele": "CCT",
          "start": 4144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.4058_4060delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Pro1353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4144,
          "referenceAllele": "CCT",
          "start": 4141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.4055_4057delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Pro1352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4219,
          "referenceAllele": "CCT",
          "start": 4216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.4130_4132delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Pro1377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4090,
          "referenceAllele": "CCT",
          "start": 4087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.4001_4003delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Pro1334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4117,
          "referenceAllele": "CCT",
          "start": 4114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.4097_4099delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Pro1366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4363,
          "referenceAllele": "CCT",
          "start": 4360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.2843_2845delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Pro948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4021,
          "referenceAllele": "CCT",
          "start": 4018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3932_3934delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Pro1311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825186602",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4245,
          "referenceAllele": "CCT",
          "start": 4242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.4133_4135delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Pro1378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4133_4135delinsCCT"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4133_4135delinsCCT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Pro1378="
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Pro1378="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828414208",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4113,
          "referenceAllele": "CCT",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.4001_4003delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Pro1334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828420342",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4116,
          "referenceAllele": "CCT",
          "start": 4113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.4004_4006delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Pro1335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825438232",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4044,
          "referenceAllele": "CCT",
          "start": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3932_3934delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Pro1311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825576253",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4176,
          "referenceAllele": "CCT",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.4064_4066delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Pro1355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827004161",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 3936,
          "referenceAllele": "CCT",
          "start": 3933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3824_3826delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Pro1275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827009267",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 3880,
          "referenceAllele": "CCT",
          "start": 3877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3788_3790delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Pro1263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827015104",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 3739,
          "referenceAllele": "CCT",
          "start": 3736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.3401_3403delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Pro1134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827019617",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4035,
          "referenceAllele": "CCT",
          "start": 4032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3965_3967delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Pro1322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828094032",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4047,
          "referenceAllele": "CCT",
          "start": 4044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3935_3937delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Pro1312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829980475",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 4116,
          "referenceAllele": "CCT",
          "start": 4113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.4004_4006delinsCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Pro1335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}