{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA013675",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50163[alleleid]",
        "alleleId": 50163,
        "preferredName": "NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41724",
        "RCV": [
          "RCV000034641",
          "RCV000055595",
          "RCV000122202",
          "RCV000163628",
          "RCV000230505",
          "RCV000714826"
        ],
        "variationId": 41724
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-2110765-C-T",
        "id": "16-2110765-C-T",
        "variant": "16:2110765 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2110765C>T?assembly=hg19",
        "id": "chr16:g.2110765C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2060764C>T?assembly=hg38",
        "id": "chr16:g.2060764C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150195368",
        "rs": 150195368
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2110765-C-T?dataset=gnomad_r2_1",
        "id": "16-2110765-C-T",
        "variant": "16:2110765 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2060764-C-T?dataset=gnomad_r3",
        "id": "16-2060764-C-T",
        "variant": "16:2060764 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2060764-C-T?dataset=gnomad_r4",
        "id": "16-2060764-C-T",
        "variant": "16:2060764 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2060764,
          "referenceAllele": "C",
          "start": 2060763
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2060764C>T",
        "CM000678.2:g.2060764C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2110765,
          "referenceAllele": "C",
          "start": 2110764
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2110765C>T",
        "CM000678.1:g.2110765C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2050766,
          "referenceAllele": "C",
          "start": 2050765
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2050766C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16459,
          "referenceAllele": "C",
          "start": 16458
        }
      ],
      "hgvs": [
        "NG_005895.1:g.16459C>T",
        "LRG_487:g.16459C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1181,
          "referenceAllele": "C",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000455997.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.1115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Ala372Val",
        "hgvsWellDefined": "ENSP00000495146.2:p.Ala372Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1141,
          "referenceAllele": "C",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000495459.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1162,
          "referenceAllele": "C",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*507C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1013,
          "referenceAllele": "C",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*675C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*675C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000219476.3:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.1070C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.1070C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Ala357Val"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Ala357Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1145,
          "referenceAllele": "C",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000344383.4:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000384468.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "endIntronDirection": "-",
          "endIntronOffset": 1732,
          "referenceAllele": "C",
          "start": 427,
          "startIntronDirection": "-",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000467949.2:n.428-1733C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.1103C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Ala368Val",
        "hgvsWellDefined": "ENSP00000454487.1:p.Ala368Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000495099.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000493846.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642812.1:n.1115C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "referenceAllele": "C",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000494514.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1188,
          "referenceAllele": "C",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000494747.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2023,
          "referenceAllele": "C",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643149.1:n.2023C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1369,
          "referenceAllele": "C",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643298.1:c.*572C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494393.1:n.*572C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643745.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495948.1:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000495948.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1188,
          "referenceAllele": "C",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000495927.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000496262.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1182,
          "referenceAllele": "C",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644135.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495644.1:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000495644.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644222.1:n.1157C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1132,
          "referenceAllele": "C",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000496611.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1170,
          "referenceAllele": "C",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000496317.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.1063C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1187,
          "referenceAllele": "C",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644665.1:n.1187C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2041,
          "referenceAllele": "C",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645591.1:n.2041C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000495921.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "referenceAllele": "C",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646823.1:n.1484C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1771,
          "referenceAllele": "C",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647234.1:n.1771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1738,
          "referenceAllele": "C",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647242.1:n.1738C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "C",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000219476.3:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1145,
          "referenceAllele": "C",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000344383.4:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "C",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.923C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Ala308Val",
        "hgvsWellDefined": "ENSP00000371978.6:p.Ala308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000384468.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*369C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*369C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "referenceAllele": "C",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.959C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Ala320Val",
        "hgvsWellDefined": "ENSP00000399232.2:p.Ala320Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "endIntronDirection": "-",
          "endIntronOffset": 1732,
          "referenceAllele": "C",
          "start": 411,
          "startIntronDirection": "-",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000467949.1:c.412-1733C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454997.1:n.412-1733C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.1103C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Ala368Val",
        "hgvsWellDefined": "ENSP00000454487.1:p.Ala368Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA162590",
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.1070C>T",
        "LRG_487t1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ala357Val",
        "hgvsWellDefined": "NP_000539.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825435099",
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ala357Val",
        "hgvsWellDefined": "NP_001070651.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825572979",
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ala357Val",
        "hgvsWellDefined": "NP_001107854.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Ala357Val",
        "hgvsWellDefined": "XP_005255586.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Ala357Val",
        "hgvsWellDefined": "XP_005255588.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Ala357Val",
        "hgvsWellDefined": "XP_011520938.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Ala357Val",
        "hgvsWellDefined": "XP_011520939.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.959C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Ala320Val",
        "hgvsWellDefined": "XP_011520940.1:p.Ala320Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Ala357Val",
        "hgvsWellDefined": "XP_011520941.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Ala357Val",
        "hgvsWellDefined": "XP_011520942.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.959C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Ala320Val",
        "hgvsWellDefined": "XP_011520943.1:p.Ala320Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA162590",
      "coordinates": [
        {
          "allele": "T",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ala357Val",
        "hgvsWellDefined": "NP_000539.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825435099",
      "coordinates": [
        {
          "allele": "T",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ala357Val",
        "hgvsWellDefined": "NP_001070651.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825572979",
      "coordinates": [
        {
          "allele": "T",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ala357Val",
        "hgvsWellDefined": "NP_001107854.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827000930",
      "coordinates": [
        {
          "allele": "T",
          "end": 1159,
          "referenceAllele": "C",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.959C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Ala320Val",
        "hgvsWellDefined": "NP_001305756.1:p.Ala320Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827006586",
      "coordinates": [
        {
          "allele": "T",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.923C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Ala308Val",
        "hgvsWellDefined": "NP_001305758.1:p.Ala308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827011900",
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.470C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Ala157Val",
        "hgvsWellDefined": "NP_001305760.1:p.Ala157Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916023372",
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.1103C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Ala368Val",
        "hgvsWellDefined": "NP_001305761.1:p.Ala368Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828090736",
      "coordinates": [
        {
          "allele": "T",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Ala357Val",
        "hgvsWellDefined": "NP_001350457.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829972519",
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Ala357Val",
        "hgvsWellDefined": "NP_066399.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Ala357Val",
        "hgvsWellDefined": "XP_005255588.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Ala357Val",
        "hgvsWellDefined": "XP_011520938.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Ala357Val",
        "hgvsWellDefined": "XP_011520939.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1250,
          "referenceAllele": "C",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Ala411Val",
        "hgvsWellDefined": "XP_011520940.2:p.Ala411Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Ala357Val",
        "hgvsWellDefined": "XP_011520941.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Ala357Val",
        "hgvsWellDefined": "XP_011520942.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Ala357Val",
        "hgvsWellDefined": "XP_016879104.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Ala357Val",
        "hgvsWellDefined": "XP_016879105.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1250,
          "referenceAllele": "C",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Ala411Val",
        "hgvsWellDefined": "XP_016879106.1:p.Ala411Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.-362C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:n.-362C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Ala357Val",
        "hgvsWellDefined": "XP_024306181.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA162590",
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ala357Val",
        "hgvsWellDefined": "NP_000539.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.1070C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.1070C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Ala357Val"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Ala357Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828410850",
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Ala357Val",
        "hgvsWellDefined": "NP_001357333.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828416986",
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Ala357Val",
        "hgvsWellDefined": "NP_001357334.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825435099",
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ala357Val",
        "hgvsWellDefined": "NP_001070651.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825572979",
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ala357Val",
        "hgvsWellDefined": "NP_001107854.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827000930",
      "coordinates": [
        {
          "allele": "T",
          "end": 1069,
          "referenceAllele": "C",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.959C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Ala320Val",
        "hgvsWellDefined": "NP_001305756.1:p.Ala320Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827006586",
      "coordinates": [
        {
          "allele": "T",
          "end": 1013,
          "referenceAllele": "C",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.923C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Ala308Val",
        "hgvsWellDefined": "NP_001305758.1:p.Ala308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827011900",
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "referenceAllele": "C",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.470C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Ala157Val",
        "hgvsWellDefined": "NP_001305760.1:p.Ala157Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916023372",
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.1103C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Ala368Val",
        "hgvsWellDefined": "NP_001305761.1:p.Ala368Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828090736",
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Ala357Val",
        "hgvsWellDefined": "NP_001350457.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829972519",
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Ala357Val",
        "hgvsWellDefined": "NP_066399.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}