{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394299190",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.4021A>C (p.Ser1341Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2134244A>C?assembly=hg19",
        "id": "chr16:g.2134244A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2084243A>C?assembly=hg38",
        "id": "chr16:g.2084243A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2084243,
          "referenceAllele": "A",
          "start": 2084242
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2084243A>C",
        "CM000678.2:g.2084243A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2134244,
          "referenceAllele": "A",
          "start": 2134243
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2134244A>C",
        "CM000678.1:g.2134244A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2074245,
          "referenceAllele": "A",
          "start": 2074244
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2074245A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39938,
          "referenceAllele": "A",
          "start": 39937
        }
      ],
      "hgvs": [
        "NG_005895.1:g.39938A>C",
        "LRG_487:g.39938A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3852,
          "referenceAllele": "A",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*2370A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*2370A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3984,
          "referenceAllele": "A",
          "start": 3983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.3868A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Ser1290Arg",
        "hgvsWellDefined": "ENSP00000495146.2:p.Ser1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4089,
          "referenceAllele": "A",
          "start": 4088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.4018A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Ser1340Arg",
        "hgvsWellDefined": "ENSP00000495459.2:p.Ser1340Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5056,
          "referenceAllele": "A",
          "start": 5055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*4401A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*4401A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7108,
          "referenceAllele": "A",
          "start": 7107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*6770A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*6770A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4131,
          "referenceAllele": "A",
          "start": 4130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.4021A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Ser1341Arg",
        "hgvsWellDefined": "ENSP00000219476.3:p.Ser1341Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4021A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4021A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Ser1341Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Ser1341Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4027,
          "referenceAllele": "A",
          "start": 4026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.3952A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Ser1318Arg",
        "hgvsWellDefined": "ENSP00000344383.4:p.Ser1318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3926,
          "referenceAllele": "A",
          "start": 3925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.3820A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Ser1274Arg",
        "hgvsWellDefined": "ENSP00000384468.2:p.Ser1274Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3921,
          "referenceAllele": "A",
          "start": 3920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.3853A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Ser1285Arg",
        "hgvsWellDefined": "ENSP00000454487.1:p.Ser1285Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 257,
          "referenceAllele": "A",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.257A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1903,
          "referenceAllele": "A",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.1903A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2675,
          "referenceAllele": "A",
          "start": 2674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.2675A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3944,
          "referenceAllele": "A",
          "start": 3943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.3892A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Ser1298Arg",
        "hgvsWellDefined": "ENSP00000495099.1:p.Ser1298Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 203,
          "referenceAllele": "A",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642728.1:n.203A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3877,
          "referenceAllele": "A",
          "start": 3876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.3823A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Ser1275Arg",
        "hgvsWellDefined": "ENSP00000493846.1:p.Ser1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3998,
          "referenceAllele": "A",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.3889A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Ser1297Arg",
        "hgvsWellDefined": "ENSP00000494514.1:p.Ser1297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3938,
          "referenceAllele": "A",
          "start": 3937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.3820A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Ser1274Arg",
        "hgvsWellDefined": "ENSP00000494747.1:p.Ser1274Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35,
          "referenceAllele": "A",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643177.1:n.35A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1669,
          "referenceAllele": "A",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.1669A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 462,
          "referenceAllele": "A",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643533.1:n.462A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4070,
          "referenceAllele": "A",
          "start": 4069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.3952A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Ser1318Arg",
        "hgvsWellDefined": "ENSP00000495927.1:p.Ser1318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3946,
          "referenceAllele": "A",
          "start": 3945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.3892A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Ser1298Arg",
        "hgvsWellDefined": "ENSP00000496262.1:p.Ser1298Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3882,
          "referenceAllele": "A",
          "start": 3881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.3820A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Ser1274Arg",
        "hgvsWellDefined": "ENSP00000496611.1:p.Ser1274Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3923,
          "referenceAllele": "A",
          "start": 3922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.3823A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Ser1275Arg",
        "hgvsWellDefined": "ENSP00000496317.1:p.Ser1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3942,
          "referenceAllele": "A",
          "start": 3941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.3942A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2105,
          "referenceAllele": "A",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.2105A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 264,
          "referenceAllele": "A",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645186.1:c.264A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4107,
          "referenceAllele": "A",
          "start": 4106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.4021A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Ser1341Arg",
        "hgvsWellDefined": "ENSP00000495921.1:p.Ser1341Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2836,
          "referenceAllele": "A",
          "start": 2835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.2836A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "A",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.1273A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1244,
          "referenceAllele": "A",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.1244A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1134,
          "referenceAllele": "A",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.1134A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4651,
          "referenceAllele": "A",
          "start": 4650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.4021A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Ser1341Arg",
        "hgvsWellDefined": "ENSP00000219476.3:p.Ser1341Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4027,
          "referenceAllele": "A",
          "start": 4026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.3952A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Ser1318Arg",
        "hgvsWellDefined": "ENSP00000344383.4:p.Ser1318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3771,
          "referenceAllele": "A",
          "start": 3770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.3676A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Ser1226Arg",
        "hgvsWellDefined": "ENSP00000371978.6:p.Ser1226Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3926,
          "referenceAllele": "A",
          "start": 3925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.3820A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Ser1274Arg",
        "hgvsWellDefined": "ENSP00000384468.2:p.Ser1274Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3577,
          "referenceAllele": "A",
          "start": 3576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*3188A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*3188A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3793,
          "referenceAllele": "A",
          "start": 3792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.3712A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Ser1238Arg",
        "hgvsWellDefined": "ENSP00000399232.2:p.Ser1238Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1779,
          "referenceAllele": "A",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.1779A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3921,
          "referenceAllele": "A",
          "start": 3920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.3853A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Ser1285Arg",
        "hgvsWellDefined": "ENSP00000454487.1:p.Ser1285Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 203,
          "referenceAllele": "A",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.203A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1136,
          "referenceAllele": "A",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.1136A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262548",
      "coordinates": [
        {
          "allele": "C",
          "end": 4127,
          "referenceAllele": "A",
          "start": 4126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.4021A>C",
        "LRG_487t1:c.4021A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ser1341Arg",
        "hgvsWellDefined": "NP_000539.2:p.Ser1341Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825438107",
      "coordinates": [
        {
          "allele": "C",
          "end": 3926,
          "referenceAllele": "A",
          "start": 3925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.3820A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ser1274Arg",
        "hgvsWellDefined": "NP_001070651.1:p.Ser1274Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825576123",
      "coordinates": [
        {
          "allele": "C",
          "end": 4058,
          "referenceAllele": "A",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.3952A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ser1318Arg",
        "hgvsWellDefined": "NP_001107854.1:p.Ser1318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3979,
          "referenceAllele": "A",
          "start": 3978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.3892A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Ser1298Arg",
        "hgvsWellDefined": "XP_005255586.2:p.Ser1298Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3910,
          "referenceAllele": "A",
          "start": 3909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.3823A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Ser1275Arg",
        "hgvsWellDefined": "XP_005255588.2:p.Ser1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4162,
          "referenceAllele": "A",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.4075A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Ser1359Arg",
        "hgvsWellDefined": "XP_011520938.1:p.Ser1359Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4159,
          "referenceAllele": "A",
          "start": 4158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.4072A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Ser1358Arg",
        "hgvsWellDefined": "XP_011520939.1:p.Ser1358Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4123,
          "referenceAllele": "A",
          "start": 4122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.3964A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Ser1322Arg",
        "hgvsWellDefined": "XP_011520940.1:p.Ser1322Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4033,
          "referenceAllele": "A",
          "start": 4032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.3946A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Ser1316Arg",
        "hgvsWellDefined": "XP_011520941.1:p.Ser1316Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4030,
          "referenceAllele": "A",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.3943A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Ser1315Arg",
        "hgvsWellDefined": "XP_011520942.1:p.Ser1315Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3871,
          "referenceAllele": "A",
          "start": 3870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.3712A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Ser1238Arg",
        "hgvsWellDefined": "XP_011520943.1:p.Ser1238Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262548",
      "coordinates": [
        {
          "allele": "C",
          "end": 4221,
          "referenceAllele": "A",
          "start": 4220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.4021A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ser1341Arg",
        "hgvsWellDefined": "NP_000539.2:p.Ser1341Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825438107",
      "coordinates": [
        {
          "allele": "C",
          "end": 4020,
          "referenceAllele": "A",
          "start": 4019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.3820A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ser1274Arg",
        "hgvsWellDefined": "NP_001070651.1:p.Ser1274Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825576123",
      "coordinates": [
        {
          "allele": "C",
          "end": 4152,
          "referenceAllele": "A",
          "start": 4151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.3952A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ser1318Arg",
        "hgvsWellDefined": "NP_001107854.1:p.Ser1318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827004028",
      "coordinates": [
        {
          "allele": "C",
          "end": 3912,
          "referenceAllele": "A",
          "start": 3911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.3712A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Ser1238Arg",
        "hgvsWellDefined": "NP_001305756.1:p.Ser1238Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827009154",
      "coordinates": [
        {
          "allele": "C",
          "end": 3856,
          "referenceAllele": "A",
          "start": 3855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.3676A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Ser1226Arg",
        "hgvsWellDefined": "NP_001305758.1:p.Ser1226Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827014976",
      "coordinates": [
        {
          "allele": "C",
          "end": 3715,
          "referenceAllele": "A",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.3289A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Ser1097Arg",
        "hgvsWellDefined": "NP_001305760.1:p.Ser1097Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827019486",
      "coordinates": [
        {
          "allele": "C",
          "end": 3921,
          "referenceAllele": "A",
          "start": 3920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.3853A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Ser1285Arg",
        "hgvsWellDefined": "NP_001305761.1:p.Ser1285Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828093902",
      "coordinates": [
        {
          "allele": "C",
          "end": 4023,
          "referenceAllele": "A",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.3823A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Ser1275Arg",
        "hgvsWellDefined": "NP_001350457.1:p.Ser1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829980234",
      "coordinates": [
        {
          "allele": "C",
          "end": 4002,
          "referenceAllele": "A",
          "start": 4001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.3892A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Ser1298Arg",
        "hgvsWellDefined": "NP_066399.2:p.Ser1298Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3910,
          "referenceAllele": "A",
          "start": 3909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.3823A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Ser1275Arg",
        "hgvsWellDefined": "XP_005255588.2:p.Ser1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4162,
          "referenceAllele": "A",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.4075A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Ser1359Arg",
        "hgvsWellDefined": "XP_011520938.1:p.Ser1359Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4159,
          "referenceAllele": "A",
          "start": 4158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.4072A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Ser1358Arg",
        "hgvsWellDefined": "XP_011520939.1:p.Ser1358Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4255,
          "referenceAllele": "A",
          "start": 4254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.4237A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Ser1413Arg",
        "hgvsWellDefined": "XP_011520940.2:p.Ser1413Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4033,
          "referenceAllele": "A",
          "start": 4032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.3946A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Ser1316Arg",
        "hgvsWellDefined": "XP_011520941.1:p.Ser1316Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4030,
          "referenceAllele": "A",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.3943A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Ser1315Arg",
        "hgvsWellDefined": "XP_011520942.1:p.Ser1315Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4105,
          "referenceAllele": "A",
          "start": 4104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.4018A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Ser1340Arg",
        "hgvsWellDefined": "XP_016879104.1:p.Ser1340Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3976,
          "referenceAllele": "A",
          "start": 3975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.3889A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Ser1297Arg",
        "hgvsWellDefined": "XP_016879105.1:p.Ser1297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4003,
          "referenceAllele": "A",
          "start": 4002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.3985A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Ser1329Arg",
        "hgvsWellDefined": "XP_016879106.1:p.Ser1329Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4249,
          "referenceAllele": "A",
          "start": 4248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.2731A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Ser911Arg",
        "hgvsWellDefined": "XP_016879107.1:p.Ser911Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3907,
          "referenceAllele": "A",
          "start": 3906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3820A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Ser1274Arg",
        "hgvsWellDefined": "XP_024306181.1:p.Ser1274Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262548",
      "coordinates": [
        {
          "allele": "C",
          "end": 4131,
          "referenceAllele": "A",
          "start": 4130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.4021A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ser1341Arg",
        "hgvsWellDefined": "NP_000539.2:p.Ser1341Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4021A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4021A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Ser1341Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Ser1341Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828414076",
      "coordinates": [
        {
          "allele": "C",
          "end": 3999,
          "referenceAllele": "A",
          "start": 3998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.3889A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Ser1297Arg",
        "hgvsWellDefined": "NP_001357333.1:p.Ser1297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828420217",
      "coordinates": [
        {
          "allele": "C",
          "end": 4002,
          "referenceAllele": "A",
          "start": 4001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.3892A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Ser1298Arg",
        "hgvsWellDefined": "NP_001357334.1:p.Ser1298Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825438107",
      "coordinates": [
        {
          "allele": "C",
          "end": 3930,
          "referenceAllele": "A",
          "start": 3929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3820A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ser1274Arg",
        "hgvsWellDefined": "NP_001070651.1:p.Ser1274Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825576123",
      "coordinates": [
        {
          "allele": "C",
          "end": 4062,
          "referenceAllele": "A",
          "start": 4061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.3952A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ser1318Arg",
        "hgvsWellDefined": "NP_001107854.1:p.Ser1318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827004028",
      "coordinates": [
        {
          "allele": "C",
          "end": 3822,
          "referenceAllele": "A",
          "start": 3821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3712A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Ser1238Arg",
        "hgvsWellDefined": "NP_001305756.1:p.Ser1238Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827009154",
      "coordinates": [
        {
          "allele": "C",
          "end": 3766,
          "referenceAllele": "A",
          "start": 3765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3676A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Ser1226Arg",
        "hgvsWellDefined": "NP_001305758.1:p.Ser1226Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827014976",
      "coordinates": [
        {
          "allele": "C",
          "end": 3625,
          "referenceAllele": "A",
          "start": 3624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.3289A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Ser1097Arg",
        "hgvsWellDefined": "NP_001305760.1:p.Ser1097Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827019486",
      "coordinates": [
        {
          "allele": "C",
          "end": 3921,
          "referenceAllele": "A",
          "start": 3920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3853A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Ser1285Arg",
        "hgvsWellDefined": "NP_001305761.1:p.Ser1285Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828093902",
      "coordinates": [
        {
          "allele": "C",
          "end": 3933,
          "referenceAllele": "A",
          "start": 3932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3823A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Ser1275Arg",
        "hgvsWellDefined": "NP_001350457.1:p.Ser1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829980234",
      "coordinates": [
        {
          "allele": "C",
          "end": 4002,
          "referenceAllele": "A",
          "start": 4001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.3892A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Ser1298Arg",
        "hgvsWellDefined": "NP_066399.2:p.Ser1298Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}