{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA019722",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.3943C>T (p.Pro1315Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75877[alleleid]",
        "alleleId": 75877,
        "preferredName": "NM_000548.5(TSC2):c.3943C>T (p.Pro1315Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64947",
        "RCV": [
          "RCV000055150",
          "RCV001853088",
          "RCV002371894"
        ],
        "variationId": 64947
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2133755C>T?assembly=hg19",
        "id": "chr16:g.2133755C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2083754C>T?assembly=hg38",
        "id": "chr16:g.2083754C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514916",
        "rs": 397514916
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2083754,
          "referenceAllele": "C",
          "start": 2083753
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2083754C>T",
        "CM000678.2:g.2083754C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2133755,
          "referenceAllele": "C",
          "start": 2133754
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2133755C>T",
        "CM000678.1:g.2133755C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2073756,
          "referenceAllele": "C",
          "start": 2073755
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2073756C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39449,
          "referenceAllele": "C",
          "start": 39448
        }
      ],
      "hgvs": [
        "NG_005895.1:g.39449C>T",
        "LRG_487:g.39449C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3774,
          "referenceAllele": "C",
          "start": 3773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*2292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*2292C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3906,
          "referenceAllele": "C",
          "start": 3905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.3790C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Pro1264Ser",
        "hgvsWellDefined": "ENSP00000495146.2:p.Pro1264Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4011,
          "referenceAllele": "C",
          "start": 4010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.3940C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Pro1314Ser",
        "hgvsWellDefined": "ENSP00000495459.2:p.Pro1314Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4978,
          "referenceAllele": "C",
          "start": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*4323C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*4323C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7030,
          "referenceAllele": "C",
          "start": 7029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*6692C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*6692C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4053,
          "referenceAllele": "C",
          "start": 4052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.3943C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Pro1315Ser",
        "hgvsWellDefined": "ENSP00000219476.3:p.Pro1315Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.3943C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.3943C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Pro1315Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Pro1315Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3949,
          "referenceAllele": "C",
          "start": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.3874C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Pro1292Ser",
        "hgvsWellDefined": "ENSP00000344383.4:p.Pro1292Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3848,
          "referenceAllele": "C",
          "start": 3847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.3742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Pro1248Ser",
        "hgvsWellDefined": "ENSP00000384468.2:p.Pro1248Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3843,
          "referenceAllele": "C",
          "start": 3842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.3775C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Pro1259Ser",
        "hgvsWellDefined": "ENSP00000454487.1:p.Pro1259Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 179,
          "referenceAllele": "C",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.179C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1825,
          "referenceAllele": "C",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.1825C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2597,
          "referenceAllele": "C",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.2597C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3866,
          "referenceAllele": "C",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Pro1272Ser",
        "hgvsWellDefined": "ENSP00000495099.1:p.Pro1272Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642728.1:n.125C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3799,
          "referenceAllele": "C",
          "start": 3798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.3745C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Pro1249Ser",
        "hgvsWellDefined": "ENSP00000493846.1:p.Pro1249Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3920,
          "referenceAllele": "C",
          "start": 3919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.3811C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Pro1271Ser",
        "hgvsWellDefined": "ENSP00000494514.1:p.Pro1271Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3860,
          "referenceAllele": "C",
          "start": 3859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.3742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Pro1248Ser",
        "hgvsWellDefined": "ENSP00000494747.1:p.Pro1248Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1591,
          "referenceAllele": "C",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.1591C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643533.1:n.384C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3992,
          "referenceAllele": "C",
          "start": 3991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.3874C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Pro1292Ser",
        "hgvsWellDefined": "ENSP00000495927.1:p.Pro1292Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3868,
          "referenceAllele": "C",
          "start": 3867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Pro1272Ser",
        "hgvsWellDefined": "ENSP00000496262.1:p.Pro1272Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3804,
          "referenceAllele": "C",
          "start": 3803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.3742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Pro1248Ser",
        "hgvsWellDefined": "ENSP00000496611.1:p.Pro1248Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3845,
          "referenceAllele": "C",
          "start": 3844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.3745C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Pro1249Ser",
        "hgvsWellDefined": "ENSP00000496317.1:p.Pro1249Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3864,
          "referenceAllele": "C",
          "start": 3863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.3864C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2027,
          "referenceAllele": "C",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.2027C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 186,
          "referenceAllele": "C",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645186.1:c.186C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4029,
          "referenceAllele": "C",
          "start": 4028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.3943C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Pro1315Ser",
        "hgvsWellDefined": "ENSP00000495921.1:p.Pro1315Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2758,
          "referenceAllele": "C",
          "start": 2757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.2758C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.1195C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.1166C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1056,
          "referenceAllele": "C",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.1056C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4573,
          "referenceAllele": "C",
          "start": 4572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.3943C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Pro1315Ser",
        "hgvsWellDefined": "ENSP00000219476.3:p.Pro1315Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3949,
          "referenceAllele": "C",
          "start": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.3874C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Pro1292Ser",
        "hgvsWellDefined": "ENSP00000344383.4:p.Pro1292Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3693,
          "referenceAllele": "C",
          "start": 3692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.3598C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Pro1200Ser",
        "hgvsWellDefined": "ENSP00000371978.6:p.Pro1200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3848,
          "referenceAllele": "C",
          "start": 3847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.3742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Pro1248Ser",
        "hgvsWellDefined": "ENSP00000384468.2:p.Pro1248Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3499,
          "referenceAllele": "C",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*3110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*3110C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3715,
          "referenceAllele": "C",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.3634C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Pro1212Ser",
        "hgvsWellDefined": "ENSP00000399232.2:p.Pro1212Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1701,
          "referenceAllele": "C",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.1701C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3843,
          "referenceAllele": "C",
          "start": 3842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.3775C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Pro1259Ser",
        "hgvsWellDefined": "ENSP00000454487.1:p.Pro1259Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.125C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.1058C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108004",
      "coordinates": [
        {
          "allele": "T",
          "end": 4049,
          "referenceAllele": "C",
          "start": 4048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.3943C>T",
        "LRG_487t1:c.3943C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Pro1315Ser",
        "hgvsWellDefined": "NP_000539.2:p.Pro1315Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825438002",
      "coordinates": [
        {
          "allele": "T",
          "end": 3848,
          "referenceAllele": "C",
          "start": 3847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.3742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Pro1248Ser",
        "hgvsWellDefined": "NP_001070651.1:p.Pro1248Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825576019",
      "coordinates": [
        {
          "allele": "T",
          "end": 3980,
          "referenceAllele": "C",
          "start": 3979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.3874C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Pro1292Ser",
        "hgvsWellDefined": "NP_001107854.1:p.Pro1292Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3901,
          "referenceAllele": "C",
          "start": 3900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Pro1272Ser",
        "hgvsWellDefined": "XP_005255586.2:p.Pro1272Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3832,
          "referenceAllele": "C",
          "start": 3831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.3745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Pro1249Ser",
        "hgvsWellDefined": "XP_005255588.2:p.Pro1249Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4084,
          "referenceAllele": "C",
          "start": 4083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.3997C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Pro1333Ser",
        "hgvsWellDefined": "XP_011520938.1:p.Pro1333Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4081,
          "referenceAllele": "C",
          "start": 4080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.3994C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Pro1332Ser",
        "hgvsWellDefined": "XP_011520939.1:p.Pro1332Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4045,
          "referenceAllele": "C",
          "start": 4044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.3886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Pro1296Ser",
        "hgvsWellDefined": "XP_011520940.1:p.Pro1296Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3955,
          "referenceAllele": "C",
          "start": 3954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.3868C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Pro1290Ser",
        "hgvsWellDefined": "XP_011520941.1:p.Pro1290Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3952,
          "referenceAllele": "C",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.3865C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Pro1289Ser",
        "hgvsWellDefined": "XP_011520942.1:p.Pro1289Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3793,
          "referenceAllele": "C",
          "start": 3792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.3634C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Pro1212Ser",
        "hgvsWellDefined": "XP_011520943.1:p.Pro1212Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108004",
      "coordinates": [
        {
          "allele": "T",
          "end": 4143,
          "referenceAllele": "C",
          "start": 4142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.3943C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Pro1315Ser",
        "hgvsWellDefined": "NP_000539.2:p.Pro1315Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825438002",
      "coordinates": [
        {
          "allele": "T",
          "end": 3942,
          "referenceAllele": "C",
          "start": 3941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.3742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Pro1248Ser",
        "hgvsWellDefined": "NP_001070651.1:p.Pro1248Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825576019",
      "coordinates": [
        {
          "allele": "T",
          "end": 4074,
          "referenceAllele": "C",
          "start": 4073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.3874C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Pro1292Ser",
        "hgvsWellDefined": "NP_001107854.1:p.Pro1292Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827003924",
      "coordinates": [
        {
          "allele": "T",
          "end": 3834,
          "referenceAllele": "C",
          "start": 3833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.3634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Pro1212Ser",
        "hgvsWellDefined": "NP_001305756.1:p.Pro1212Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827009063",
      "coordinates": [
        {
          "allele": "T",
          "end": 3778,
          "referenceAllele": "C",
          "start": 3777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.3598C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Pro1200Ser",
        "hgvsWellDefined": "NP_001305758.1:p.Pro1200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827014872",
      "coordinates": [
        {
          "allele": "T",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.3211C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Pro1071Ser",
        "hgvsWellDefined": "NP_001305760.1:p.Pro1071Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827019382",
      "coordinates": [
        {
          "allele": "T",
          "end": 3843,
          "referenceAllele": "C",
          "start": 3842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.3775C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Pro1259Ser",
        "hgvsWellDefined": "NP_001305761.1:p.Pro1259Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828093799",
      "coordinates": [
        {
          "allele": "T",
          "end": 3945,
          "referenceAllele": "C",
          "start": 3944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.3745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Pro1249Ser",
        "hgvsWellDefined": "NP_001350457.1:p.Pro1249Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829980053",
      "coordinates": [
        {
          "allele": "T",
          "end": 3924,
          "referenceAllele": "C",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Pro1272Ser",
        "hgvsWellDefined": "NP_066399.2:p.Pro1272Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3832,
          "referenceAllele": "C",
          "start": 3831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.3745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Pro1249Ser",
        "hgvsWellDefined": "XP_005255588.2:p.Pro1249Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4084,
          "referenceAllele": "C",
          "start": 4083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.3997C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Pro1333Ser",
        "hgvsWellDefined": "XP_011520938.1:p.Pro1333Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4081,
          "referenceAllele": "C",
          "start": 4080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.3994C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Pro1332Ser",
        "hgvsWellDefined": "XP_011520939.1:p.Pro1332Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4177,
          "referenceAllele": "C",
          "start": 4176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.4159C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Pro1387Ser",
        "hgvsWellDefined": "XP_011520940.2:p.Pro1387Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3955,
          "referenceAllele": "C",
          "start": 3954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.3868C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Pro1290Ser",
        "hgvsWellDefined": "XP_011520941.1:p.Pro1290Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3952,
          "referenceAllele": "C",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.3865C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Pro1289Ser",
        "hgvsWellDefined": "XP_011520942.1:p.Pro1289Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4027,
          "referenceAllele": "C",
          "start": 4026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.3940C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Pro1314Ser",
        "hgvsWellDefined": "XP_016879104.1:p.Pro1314Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3898,
          "referenceAllele": "C",
          "start": 3897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.3811C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Pro1271Ser",
        "hgvsWellDefined": "XP_016879105.1:p.Pro1271Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3925,
          "referenceAllele": "C",
          "start": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.3907C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Pro1303Ser",
        "hgvsWellDefined": "XP_016879106.1:p.Pro1303Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4171,
          "referenceAllele": "C",
          "start": 4170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.2653C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Pro885Ser",
        "hgvsWellDefined": "XP_016879107.1:p.Pro885Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3829,
          "referenceAllele": "C",
          "start": 3828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Pro1248Ser",
        "hgvsWellDefined": "XP_024306181.1:p.Pro1248Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108004",
      "coordinates": [
        {
          "allele": "T",
          "end": 4053,
          "referenceAllele": "C",
          "start": 4052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.3943C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Pro1315Ser",
        "hgvsWellDefined": "NP_000539.2:p.Pro1315Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.3943C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.3943C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Pro1315Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Pro1315Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828413974",
      "coordinates": [
        {
          "allele": "T",
          "end": 3921,
          "referenceAllele": "C",
          "start": 3920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.3811C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Pro1271Ser",
        "hgvsWellDefined": "NP_001357333.1:p.Pro1271Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828420112",
      "coordinates": [
        {
          "allele": "T",
          "end": 3924,
          "referenceAllele": "C",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Pro1272Ser",
        "hgvsWellDefined": "NP_001357334.1:p.Pro1272Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825438002",
      "coordinates": [
        {
          "allele": "T",
          "end": 3852,
          "referenceAllele": "C",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Pro1248Ser",
        "hgvsWellDefined": "NP_001070651.1:p.Pro1248Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825576019",
      "coordinates": [
        {
          "allele": "T",
          "end": 3984,
          "referenceAllele": "C",
          "start": 3983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.3874C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Pro1292Ser",
        "hgvsWellDefined": "NP_001107854.1:p.Pro1292Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827003924",
      "coordinates": [
        {
          "allele": "T",
          "end": 3744,
          "referenceAllele": "C",
          "start": 3743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Pro1212Ser",
        "hgvsWellDefined": "NP_001305756.1:p.Pro1212Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827009063",
      "coordinates": [
        {
          "allele": "T",
          "end": 3688,
          "referenceAllele": "C",
          "start": 3687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3598C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Pro1200Ser",
        "hgvsWellDefined": "NP_001305758.1:p.Pro1200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827014872",
      "coordinates": [
        {
          "allele": "T",
          "end": 3547,
          "referenceAllele": "C",
          "start": 3546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.3211C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Pro1071Ser",
        "hgvsWellDefined": "NP_001305760.1:p.Pro1071Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827019382",
      "coordinates": [
        {
          "allele": "T",
          "end": 3843,
          "referenceAllele": "C",
          "start": 3842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3775C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Pro1259Ser",
        "hgvsWellDefined": "NP_001305761.1:p.Pro1259Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828093799",
      "coordinates": [
        {
          "allele": "T",
          "end": 3855,
          "referenceAllele": "C",
          "start": 3854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Pro1249Ser",
        "hgvsWellDefined": "NP_001350457.1:p.Pro1249Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829980053",
      "coordinates": [
        {
          "allele": "T",
          "end": 3924,
          "referenceAllele": "C",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Pro1272Ser",
        "hgvsWellDefined": "NP_066399.2:p.Pro1272Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}