{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA016935",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.2210T>C (p.Leu737Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58763[alleleid]",
        "alleleId": 58763,
        "preferredName": "NM_000548.5(TSC2):c.2210T>C (p.Leu737Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49601",
        "RCV": [
          "RCV000042862"
        ],
        "variationId": 49601
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2122354T>C?assembly=hg19",
        "id": "chr16:g.2122354T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2072353T>C?assembly=hg38",
        "id": "chr16:g.2072353T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/45464093",
        "rs": 45464093
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2072353,
          "referenceAllele": "T",
          "start": 2072352
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2072353T>C",
        "CM000678.2:g.2072353T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2122354,
          "referenceAllele": "T",
          "start": 2122353
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2122354T>C",
        "CM000678.1:g.2122354T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2062355,
          "referenceAllele": "T",
          "start": 2062354
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2062355T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28048,
          "referenceAllele": "T",
          "start": 28047
        }
      ],
      "hgvs": [
        "NG_005895.1:g.28048T>C",
        "LRG_487:g.28048T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2239,
          "referenceAllele": "T",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*757T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*757T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2371,
          "referenceAllele": "T",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.2255T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Leu752Pro",
        "hgvsWellDefined": "ENSP00000495146.2:p.Leu752Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2281,
          "referenceAllele": "T",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000495459.2:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2302,
          "referenceAllele": "T",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*1647T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*1647T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2193,
          "referenceAllele": "T",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*1855T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*1855T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2320,
          "referenceAllele": "T",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000219476.3:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.2210T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.2210T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Leu737Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Leu737Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2285,
          "referenceAllele": "T",
          "start": 2284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000344383.4:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2316,
          "referenceAllele": "T",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000384468.2:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 388,
          "referenceAllele": "T",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000563346.2:n.388T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2311,
          "referenceAllele": "T",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.2243T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Leu748Pro",
        "hgvsWellDefined": "ENSP00000454487.1:p.Leu748Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 867,
          "referenceAllele": "T",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.867T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2262,
          "referenceAllele": "T",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000495099.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2264,
          "referenceAllele": "T",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000493846.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2319,
          "referenceAllele": "T",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000494514.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2328,
          "referenceAllele": "T",
          "start": 2327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000494747.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2509,
          "referenceAllele": "T",
          "start": 2508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643298.1:c.*1712T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494393.1:n.*1712T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767200"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2328,
          "referenceAllele": "T",
          "start": 2327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000495927.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2264,
          "referenceAllele": "T",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000496262.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2272,
          "referenceAllele": "T",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000496611.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2310,
          "referenceAllele": "T",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000496317.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2203,
          "referenceAllele": "T",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.2203T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1202,
          "referenceAllele": "T",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644847.1:n.1202T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "referenceAllele": "T",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.492T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645552.1:n.490T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2296,
          "referenceAllele": "T",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000495921.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.1:c.303T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.1:n.303T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1223,
          "referenceAllele": "T",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.1223T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2840,
          "referenceAllele": "T",
          "start": 2839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000219476.3:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2285,
          "referenceAllele": "T",
          "start": 2284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000344383.4:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2158,
          "referenceAllele": "T",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.2063T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Leu688Pro",
        "hgvsWellDefined": "ENSP00000371978.6:p.Leu688Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2316,
          "referenceAllele": "T",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Leu737Pro",
        "hgvsWellDefined": "ENSP00000384468.2:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1898,
          "referenceAllele": "T",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*1509T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*1509T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2180,
          "referenceAllele": "T",
          "start": 2179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.2099T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Leu700Pro",
        "hgvsWellDefined": "ENSP00000399232.2:p.Leu700Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "referenceAllele": "T",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000563346.1:n.279T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2311,
          "referenceAllele": "T",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.2243T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Leu748Pro",
        "hgvsWellDefined": "ENSP00000454487.1:p.Leu748Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262795",
      "coordinates": [
        {
          "allele": "C",
          "end": 2316,
          "referenceAllele": "T",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.2210T>C",
        "LRG_487t1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Leu737Pro",
        "hgvsWellDefined": "NP_000539.2:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825436367",
      "coordinates": [
        {
          "allele": "C",
          "end": 2316,
          "referenceAllele": "T",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Leu737Pro",
        "hgvsWellDefined": "NP_001070651.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825574341",
      "coordinates": [
        {
          "allele": "C",
          "end": 2316,
          "referenceAllele": "T",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Leu737Pro",
        "hgvsWellDefined": "NP_001107854.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Leu737Pro",
        "hgvsWellDefined": "XP_005255586.2:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Leu737Pro",
        "hgvsWellDefined": "XP_005255588.2:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Leu737Pro",
        "hgvsWellDefined": "XP_011520938.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Leu737Pro",
        "hgvsWellDefined": "XP_011520939.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.2099T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Leu700Pro",
        "hgvsWellDefined": "XP_011520940.1:p.Leu700Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Leu737Pro",
        "hgvsWellDefined": "XP_011520941.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Leu737Pro",
        "hgvsWellDefined": "XP_011520942.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.2099T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Leu700Pro",
        "hgvsWellDefined": "XP_011520943.1:p.Leu700Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262795",
      "coordinates": [
        {
          "allele": "C",
          "end": 2410,
          "referenceAllele": "T",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Leu737Pro",
        "hgvsWellDefined": "NP_000539.2:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825436367",
      "coordinates": [
        {
          "allele": "C",
          "end": 2410,
          "referenceAllele": "T",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Leu737Pro",
        "hgvsWellDefined": "NP_001070651.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825574341",
      "coordinates": [
        {
          "allele": "C",
          "end": 2410,
          "referenceAllele": "T",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Leu737Pro",
        "hgvsWellDefined": "NP_001107854.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827002294",
      "coordinates": [
        {
          "allele": "C",
          "end": 2299,
          "referenceAllele": "T",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.2099T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Leu700Pro",
        "hgvsWellDefined": "NP_001305756.1:p.Leu700Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827007737",
      "coordinates": [
        {
          "allele": "C",
          "end": 2243,
          "referenceAllele": "T",
          "start": 2242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.2063T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Leu688Pro",
        "hgvsWellDefined": "NP_001305758.1:p.Leu688Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827013399",
      "coordinates": [
        {
          "allele": "C",
          "end": 2036,
          "referenceAllele": "T",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.1610T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Leu537Pro",
        "hgvsWellDefined": "NP_001305760.1:p.Leu537Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916023829",
      "coordinates": [
        {
          "allele": "C",
          "end": 2311,
          "referenceAllele": "T",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.2243T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Leu748Pro",
        "hgvsWellDefined": "NP_001305761.1:p.Leu748Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828092100",
      "coordinates": [
        {
          "allele": "C",
          "end": 2410,
          "referenceAllele": "T",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Leu737Pro",
        "hgvsWellDefined": "NP_001350457.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829975918",
      "coordinates": [
        {
          "allele": "C",
          "end": 2320,
          "referenceAllele": "T",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Leu737Pro",
        "hgvsWellDefined": "NP_066399.2:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Leu737Pro",
        "hgvsWellDefined": "XP_005255588.2:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Leu737Pro",
        "hgvsWellDefined": "XP_011520938.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Leu737Pro",
        "hgvsWellDefined": "XP_011520939.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2390,
          "referenceAllele": "T",
          "start": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.2372T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Leu791Pro",
        "hgvsWellDefined": "XP_011520940.2:p.Leu791Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Leu737Pro",
        "hgvsWellDefined": "XP_011520941.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Leu737Pro",
        "hgvsWellDefined": "XP_011520942.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Leu737Pro",
        "hgvsWellDefined": "XP_016879104.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Leu737Pro",
        "hgvsWellDefined": "XP_016879105.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2390,
          "referenceAllele": "T",
          "start": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.2372T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Leu791Pro",
        "hgvsWellDefined": "XP_016879106.1:p.Leu791Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2384,
          "referenceAllele": "T",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.866T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Leu289Pro",
        "hgvsWellDefined": "XP_016879107.1:p.Leu289Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Leu737Pro",
        "hgvsWellDefined": "XP_024306181.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262795",
      "coordinates": [
        {
          "allele": "C",
          "end": 2320,
          "referenceAllele": "T",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Leu737Pro",
        "hgvsWellDefined": "NP_000539.2:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.2210T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.2210T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Leu737Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Leu737Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828412212",
      "coordinates": [
        {
          "allele": "C",
          "end": 2320,
          "referenceAllele": "T",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Leu737Pro",
        "hgvsWellDefined": "NP_001357333.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828418350",
      "coordinates": [
        {
          "allele": "C",
          "end": 2320,
          "referenceAllele": "T",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Leu737Pro",
        "hgvsWellDefined": "NP_001357334.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825436367",
      "coordinates": [
        {
          "allele": "C",
          "end": 2320,
          "referenceAllele": "T",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Leu737Pro",
        "hgvsWellDefined": "NP_001070651.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825574341",
      "coordinates": [
        {
          "allele": "C",
          "end": 2320,
          "referenceAllele": "T",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Leu737Pro",
        "hgvsWellDefined": "NP_001107854.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827002294",
      "coordinates": [
        {
          "allele": "C",
          "end": 2209,
          "referenceAllele": "T",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.2099T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Leu700Pro",
        "hgvsWellDefined": "NP_001305756.1:p.Leu700Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827007737",
      "coordinates": [
        {
          "allele": "C",
          "end": 2153,
          "referenceAllele": "T",
          "start": 2152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.2063T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Leu688Pro",
        "hgvsWellDefined": "NP_001305758.1:p.Leu688Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827013399",
      "coordinates": [
        {
          "allele": "C",
          "end": 1946,
          "referenceAllele": "T",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.1610T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Leu537Pro",
        "hgvsWellDefined": "NP_001305760.1:p.Leu537Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916023829",
      "coordinates": [
        {
          "allele": "C",
          "end": 2311,
          "referenceAllele": "T",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.2243T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Leu748Pro",
        "hgvsWellDefined": "NP_001305761.1:p.Leu748Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828092100",
      "coordinates": [
        {
          "allele": "C",
          "end": 2320,
          "referenceAllele": "T",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Leu737Pro",
        "hgvsWellDefined": "NP_001350457.1:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829975918",
      "coordinates": [
        {
          "allele": "C",
          "end": 2320,
          "referenceAllele": "T",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.2210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Leu737Pro",
        "hgvsWellDefined": "NP_066399.2:p.Leu737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}