{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA319361",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.2416G>A (p.Val806Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5850424",
        "active": true,
        "id": "COSM5850424"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5850425",
        "active": true,
        "id": "COSM5850425"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203144[alleleid]",
        "alleleId": 203144,
        "preferredName": "NM_000548.5(TSC2):c.2416G>A (p.Val806Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207671",
        "RCV": [
          "RCV000189907",
          "RCV000525436",
          "RCV001015274",
          "RCV003462291",
          "RCV003996866"
        ],
        "variationId": 207671
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2124261G>A?assembly=hg19",
        "id": "chr16:g.2124261G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2074260G>A?assembly=hg38",
        "id": "chr16:g.2074260G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796053473",
        "rs": 796053473
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2124261-G-A?dataset=gnomad_r2_1",
        "id": "16-2124261-G-A",
        "variant": "16:2124261 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2074260-G-A?dataset=gnomad_r3",
        "id": "16-2074260-G-A",
        "variant": "16:2074260 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2074260-G-A?dataset=gnomad_r4",
        "id": "16-2074260-G-A",
        "variant": "16:2074260 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2074260,
          "referenceAllele": "G",
          "start": 2074259
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2074260G>A",
        "CM000678.2:g.2074260G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2124261,
          "referenceAllele": "G",
          "start": 2124260
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2124261G>A",
        "CM000678.1:g.2124261G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2064262,
          "referenceAllele": "G",
          "start": 2064261
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2064262G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 29955,
          "referenceAllele": "G",
          "start": 29954
        }
      ],
      "hgvs": [
        "NG_005895.1:g.29955G>A",
        "LRG_487:g.29955G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2445,
          "referenceAllele": "G",
          "start": 2444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*963G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*963G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2577,
          "referenceAllele": "G",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.2461G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Val821Met",
        "hgvsWellDefined": "ENSP00000495146.2:p.Val821Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2487,
          "referenceAllele": "G",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Val806Met",
        "hgvsWellDefined": "ENSP00000495459.2:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2508,
          "referenceAllele": "G",
          "start": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*1853G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*1853G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2399,
          "referenceAllele": "G",
          "start": 2398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*2061G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*2061G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2526,
          "referenceAllele": "G",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Val806Met",
        "hgvsWellDefined": "ENSP00000219476.3:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.2416G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.2416G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Val806Met"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Val806Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2491,
          "referenceAllele": "G",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Val806Met",
        "hgvsWellDefined": "ENSP00000344383.4:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2522,
          "referenceAllele": "G",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Val806Met",
        "hgvsWellDefined": "ENSP00000384468.2:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000563346.2:n.594G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "G",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.2449G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Val817Met",
        "hgvsWellDefined": "ENSP00000454487.1:p.Val817Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.1073G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2468,
          "referenceAllele": "G",
          "start": 2467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Val806Met",
        "hgvsWellDefined": "ENSP00000495099.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2470,
          "referenceAllele": "G",
          "start": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Val806Met",
        "hgvsWellDefined": "ENSP00000493846.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2525,
          "referenceAllele": "G",
          "start": 2524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Val806Met",
        "hgvsWellDefined": "ENSP00000494514.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2534,
          "referenceAllele": "G",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Val806Met",
        "hgvsWellDefined": "ENSP00000494747.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2715,
          "referenceAllele": "G",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643298.1:c.*1918G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494393.1:n.*1918G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767200"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2534,
          "referenceAllele": "G",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Val806Met",
        "hgvsWellDefined": "ENSP00000495927.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2470,
          "referenceAllele": "G",
          "start": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Val806Met",
        "hgvsWellDefined": "ENSP00000496262.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2478,
          "referenceAllele": "G",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Val806Met",
        "hgvsWellDefined": "ENSP00000496611.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2516,
          "referenceAllele": "G",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Val806Met",
        "hgvsWellDefined": "ENSP00000496317.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2409,
          "referenceAllele": "G",
          "start": 2408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.2409G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1408,
          "referenceAllele": "G",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644847.1:n.1408G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 698,
          "referenceAllele": "G",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.698G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645552.1:n.696G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2502,
          "referenceAllele": "G",
          "start": 2501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Val806Met",
        "hgvsWellDefined": "ENSP00000495921.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1429,
          "referenceAllele": "G",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.1429G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3046,
          "referenceAllele": "G",
          "start": 3045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Val806Met",
        "hgvsWellDefined": "ENSP00000219476.3:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2491,
          "referenceAllele": "G",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Val806Met",
        "hgvsWellDefined": "ENSP00000344383.4:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2364,
          "referenceAllele": "G",
          "start": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.2269G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Val757Met",
        "hgvsWellDefined": "ENSP00000371978.6:p.Val757Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2522,
          "referenceAllele": "G",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Val806Met",
        "hgvsWellDefined": "ENSP00000384468.2:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2104,
          "referenceAllele": "G",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*1715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*1715G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2386,
          "referenceAllele": "G",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.2305G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Val769Met",
        "hgvsWellDefined": "ENSP00000399232.2:p.Val769Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000463808.1:n.450G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "G",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000563346.1:n.485G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "G",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.2449G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Val817Met",
        "hgvsWellDefined": "ENSP00000454487.1:p.Val817Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319363",
      "coordinates": [
        {
          "allele": "A",
          "end": 2522,
          "referenceAllele": "G",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.2416G>A",
        "LRG_487t1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Val806Met",
        "hgvsWellDefined": "NP_000539.2:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825440479",
      "coordinates": [
        {
          "allele": "A",
          "end": 2522,
          "referenceAllele": "G",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Val806Met",
        "hgvsWellDefined": "NP_001070651.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825574580",
      "coordinates": [
        {
          "allele": "A",
          "end": 2522,
          "referenceAllele": "G",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Val806Met",
        "hgvsWellDefined": "NP_001107854.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Val806Met",
        "hgvsWellDefined": "XP_005255586.2:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Val806Met",
        "hgvsWellDefined": "XP_005255588.2:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Val806Met",
        "hgvsWellDefined": "XP_011520938.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Val806Met",
        "hgvsWellDefined": "XP_011520939.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2464,
          "referenceAllele": "G",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.2305G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Val769Met",
        "hgvsWellDefined": "XP_011520940.1:p.Val769Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Val806Met",
        "hgvsWellDefined": "XP_011520941.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Val806Met",
        "hgvsWellDefined": "XP_011520942.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2464,
          "referenceAllele": "G",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.2305G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Val769Met",
        "hgvsWellDefined": "XP_011520943.1:p.Val769Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319363",
      "coordinates": [
        {
          "allele": "A",
          "end": 2616,
          "referenceAllele": "G",
          "start": 2615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Val806Met",
        "hgvsWellDefined": "NP_000539.2:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825440479",
      "coordinates": [
        {
          "allele": "A",
          "end": 2616,
          "referenceAllele": "G",
          "start": 2615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Val806Met",
        "hgvsWellDefined": "NP_001070651.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825574580",
      "coordinates": [
        {
          "allele": "A",
          "end": 2616,
          "referenceAllele": "G",
          "start": 2615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Val806Met",
        "hgvsWellDefined": "NP_001107854.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827002530",
      "coordinates": [
        {
          "allele": "A",
          "end": 2505,
          "referenceAllele": "G",
          "start": 2504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.2305G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Val769Met",
        "hgvsWellDefined": "NP_001305756.1:p.Val769Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827011442",
      "coordinates": [
        {
          "allele": "A",
          "end": 2449,
          "referenceAllele": "G",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.2269G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Val757Met",
        "hgvsWellDefined": "NP_001305758.1:p.Val757Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827013639",
      "coordinates": [
        {
          "allele": "A",
          "end": 2242,
          "referenceAllele": "G",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.1816G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Val606Met",
        "hgvsWellDefined": "NP_001305760.1:p.Val606Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916023906",
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "G",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.2449G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Val817Met",
        "hgvsWellDefined": "NP_001305761.1:p.Val817Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828092337",
      "coordinates": [
        {
          "allele": "A",
          "end": 2616,
          "referenceAllele": "G",
          "start": 2615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Val806Met",
        "hgvsWellDefined": "NP_001350457.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829976519",
      "coordinates": [
        {
          "allele": "A",
          "end": 2526,
          "referenceAllele": "G",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Val806Met",
        "hgvsWellDefined": "NP_066399.2:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Val806Met",
        "hgvsWellDefined": "XP_005255588.2:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Val806Met",
        "hgvsWellDefined": "XP_011520938.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Val806Met",
        "hgvsWellDefined": "XP_011520939.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2596,
          "referenceAllele": "G",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.2578G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Val860Met",
        "hgvsWellDefined": "XP_011520940.2:p.Val860Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Val806Met",
        "hgvsWellDefined": "XP_011520941.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Val806Met",
        "hgvsWellDefined": "XP_011520942.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Val806Met",
        "hgvsWellDefined": "XP_016879104.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Val806Met",
        "hgvsWellDefined": "XP_016879105.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2596,
          "referenceAllele": "G",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.2578G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Val860Met",
        "hgvsWellDefined": "XP_016879106.1:p.Val860Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2590,
          "referenceAllele": "G",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.1072G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Val358Met",
        "hgvsWellDefined": "XP_016879107.1:p.Val358Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Val806Met",
        "hgvsWellDefined": "XP_024306181.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319363",
      "coordinates": [
        {
          "allele": "A",
          "end": 2526,
          "referenceAllele": "G",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Val806Met",
        "hgvsWellDefined": "NP_000539.2:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.2416G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.2416G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Val806Met"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Val806Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828412451",
      "coordinates": [
        {
          "allele": "A",
          "end": 2526,
          "referenceAllele": "G",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Val806Met",
        "hgvsWellDefined": "NP_001357333.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828418586",
      "coordinates": [
        {
          "allele": "A",
          "end": 2526,
          "referenceAllele": "G",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Val806Met",
        "hgvsWellDefined": "NP_001357334.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825440479",
      "coordinates": [
        {
          "allele": "A",
          "end": 2526,
          "referenceAllele": "G",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Val806Met",
        "hgvsWellDefined": "NP_001070651.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825574580",
      "coordinates": [
        {
          "allele": "A",
          "end": 2526,
          "referenceAllele": "G",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Val806Met",
        "hgvsWellDefined": "NP_001107854.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827002530",
      "coordinates": [
        {
          "allele": "A",
          "end": 2415,
          "referenceAllele": "G",
          "start": 2414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.2305G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Val769Met",
        "hgvsWellDefined": "NP_001305756.1:p.Val769Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827011442",
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "referenceAllele": "G",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.2269G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Val757Met",
        "hgvsWellDefined": "NP_001305758.1:p.Val757Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827013639",
      "coordinates": [
        {
          "allele": "A",
          "end": 2152,
          "referenceAllele": "G",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.1816G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Val606Met",
        "hgvsWellDefined": "NP_001305760.1:p.Val606Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916023906",
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "G",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.2449G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Val817Met",
        "hgvsWellDefined": "NP_001305761.1:p.Val817Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828092337",
      "coordinates": [
        {
          "allele": "A",
          "end": 2526,
          "referenceAllele": "G",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Val806Met",
        "hgvsWellDefined": "NP_001350457.1:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829976519",
      "coordinates": [
        {
          "allele": "A",
          "end": 2526,
          "referenceAllele": "G",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.2416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Val806Met",
        "hgvsWellDefined": "NP_066399.2:p.Val806Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}