{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA022245",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59124[alleleid]",
        "alleleId": 59124,
        "preferredName": "NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49962",
        "RCV": [
          "RCV000043229",
          "RCV003311673"
        ],
        "variationId": 49962
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2138298T>C?assembly=hg19",
        "id": "chr16:g.2138298T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2088297T>C?assembly=hg38",
        "id": "chr16:g.2088297T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/45517413",
        "rs": 45517413
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2088297,
          "referenceAllele": "T",
          "start": 2088296
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2088297T>C",
        "CM000678.2:g.2088297T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2138298,
          "referenceAllele": "T",
          "start": 2138297
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2138298T>C",
        "CM000678.1:g.2138298T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2078299,
          "referenceAllele": "T",
          "start": 2078298
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2078299T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43992,
          "referenceAllele": "T",
          "start": 43991
        }
      ],
      "hgvs": [
        "NG_005895.1:g.43992T>C",
        "LRG_487:g.43992T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 54924,
          "referenceAllele": "A",
          "start": 54923
        }
      ],
      "hgvs": [
        "NG_008617.1:g.54924A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5062,
          "referenceAllele": "T",
          "start": 5061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*3580T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*3580T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5194,
          "referenceAllele": "T",
          "start": 5193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.5078T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Leu1693Pro",
        "hgvsWellDefined": "ENSP00000495146.2:p.Leu1693Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5299,
          "referenceAllele": "T",
          "start": 5298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.5228T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Leu1743Pro",
        "hgvsWellDefined": "ENSP00000495459.2:p.Leu1743Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6399,
          "referenceAllele": "T",
          "start": 6398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*5744T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*5744T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8318,
          "referenceAllele": "T",
          "start": 8317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*7980T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*7980T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5341,
          "referenceAllele": "T",
          "start": 5340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.5231T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Leu1744Pro",
        "hgvsWellDefined": "ENSP00000219476.3:p.Leu1744Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.5231T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.5231T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Leu1744Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Leu1744Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5237,
          "referenceAllele": "T",
          "start": 5236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.5162T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Leu1721Pro",
        "hgvsWellDefined": "ENSP00000344383.4:p.Leu1721Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5136,
          "referenceAllele": "T",
          "start": 5135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.5030T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Leu1677Pro",
        "hgvsWellDefined": "ENSP00000384468.2:p.Leu1677Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5131,
          "referenceAllele": "T",
          "start": 5130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.5063T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Leu1688Pro",
        "hgvsWellDefined": "ENSP00000454487.1:p.Leu1688Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "T",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.1454T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3113,
          "referenceAllele": "T",
          "start": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.3113T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3885,
          "referenceAllele": "T",
          "start": 3884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.3885T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5142,
          "referenceAllele": "T",
          "start": 5141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.5090T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Leu1697Pro",
        "hgvsWellDefined": "ENSP00000495099.1:p.Leu1697Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 828,
          "referenceAllele": "T",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642791.1:n.828T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5087,
          "referenceAllele": "T",
          "start": 5086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.5033T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Leu1678Pro",
        "hgvsWellDefined": "ENSP00000493846.1:p.Leu1678Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5208,
          "referenceAllele": "T",
          "start": 5207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.5099T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Leu1700Pro",
        "hgvsWellDefined": "ENSP00000494514.1:p.Leu1700Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5142,
          "referenceAllele": "T",
          "start": 5141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.5024T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Leu1675Pro",
        "hgvsWellDefined": "ENSP00000494747.1:p.Leu1675Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2879,
          "referenceAllele": "T",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.2879T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5274,
          "referenceAllele": "T",
          "start": 5273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.5156T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Leu1719Pro",
        "hgvsWellDefined": "ENSP00000495927.1:p.Leu1719Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5156,
          "referenceAllele": "T",
          "start": 5155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.5102T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Leu1701Pro",
        "hgvsWellDefined": "ENSP00000496262.1:p.Leu1701Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5179,
          "referenceAllele": "T",
          "start": 5178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.5117T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Leu1706Pro",
        "hgvsWellDefined": "ENSP00000496611.1:p.Leu1706Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5127,
          "referenceAllele": "T",
          "start": 5126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.5027T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Leu1676Pro",
        "hgvsWellDefined": "ENSP00000496317.1:p.Leu1676Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5152,
          "referenceAllele": "T",
          "start": 5151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.5152T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3315,
          "referenceAllele": "T",
          "start": 3314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.3315T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5311,
          "referenceAllele": "T",
          "start": 5310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.5225T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Leu1742Pro",
        "hgvsWellDefined": "ENSP00000495921.1:p.Leu1742Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4046,
          "referenceAllele": "T",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.4046T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2483,
          "referenceAllele": "T",
          "start": 2482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.2483T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2454,
          "referenceAllele": "T",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.2454T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2344,
          "referenceAllele": "T",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.2344T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5861,
          "referenceAllele": "T",
          "start": 5860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.5231T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Leu1744Pro",
        "hgvsWellDefined": "ENSP00000219476.3:p.Leu1744Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5237,
          "referenceAllele": "T",
          "start": 5236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.5162T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Leu1721Pro",
        "hgvsWellDefined": "ENSP00000344383.4:p.Leu1721Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4981,
          "referenceAllele": "T",
          "start": 4980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.4886T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Leu1629Pro",
        "hgvsWellDefined": "ENSP00000371978.6:p.Leu1629Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5136,
          "referenceAllele": "T",
          "start": 5135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.5030T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Leu1677Pro",
        "hgvsWellDefined": "ENSP00000384468.2:p.Leu1677Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4787,
          "referenceAllele": "T",
          "start": 4786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*4398T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*4398T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5003,
          "referenceAllele": "T",
          "start": 5002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.4922T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Leu1641Pro",
        "hgvsWellDefined": "ENSP00000399232.2:p.Leu1641Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2954,
          "referenceAllele": "T",
          "start": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.2954T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5131,
          "referenceAllele": "T",
          "start": 5130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.5063T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Leu1688Pro",
        "hgvsWellDefined": "ENSP00000454487.1:p.Leu1688Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1413,
          "referenceAllele": "T",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.1413T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2346,
          "referenceAllele": "T",
          "start": 2345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.2346T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107894",
      "coordinates": [
        {
          "allele": "C",
          "end": 5337,
          "referenceAllele": "T",
          "start": 5336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.5231T>C",
        "LRG_487t1:c.5231T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Leu1744Pro",
        "hgvsWellDefined": "NP_000539.2:p.Leu1744Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825439558",
      "coordinates": [
        {
          "allele": "C",
          "end": 5136,
          "referenceAllele": "T",
          "start": 5135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.5030T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Leu1677Pro",
        "hgvsWellDefined": "NP_001070651.1:p.Leu1677Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825577598",
      "coordinates": [
        {
          "allele": "C",
          "end": 5268,
          "referenceAllele": "T",
          "start": 5267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.5162T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Leu1721Pro",
        "hgvsWellDefined": "NP_001107854.1:p.Leu1721Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5189,
          "referenceAllele": "T",
          "start": 5188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.5102T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Leu1701Pro",
        "hgvsWellDefined": "XP_005255586.2:p.Leu1701Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5120,
          "referenceAllele": "T",
          "start": 5119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.5033T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Leu1678Pro",
        "hgvsWellDefined": "XP_005255588.2:p.Leu1678Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5372,
          "referenceAllele": "T",
          "start": 5371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.5285T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Leu1762Pro",
        "hgvsWellDefined": "XP_011520938.1:p.Leu1762Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5369,
          "referenceAllele": "T",
          "start": 5368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.5282T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Leu1761Pro",
        "hgvsWellDefined": "XP_011520939.1:p.Leu1761Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5333,
          "referenceAllele": "T",
          "start": 5332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.5174T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Leu1725Pro",
        "hgvsWellDefined": "XP_011520940.1:p.Leu1725Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5243,
          "referenceAllele": "T",
          "start": 5242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.5156T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Leu1719Pro",
        "hgvsWellDefined": "XP_011520941.1:p.Leu1719Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5240,
          "referenceAllele": "T",
          "start": 5239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.5153T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Leu1718Pro",
        "hgvsWellDefined": "XP_011520942.1:p.Leu1718Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5081,
          "referenceAllele": "T",
          "start": 5080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.4922T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Leu1641Pro",
        "hgvsWellDefined": "XP_011520943.1:p.Leu1641Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107894",
      "coordinates": [
        {
          "allele": "C",
          "end": 5431,
          "referenceAllele": "T",
          "start": 5430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.5231T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Leu1744Pro",
        "hgvsWellDefined": "NP_000539.2:p.Leu1744Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825439558",
      "coordinates": [
        {
          "allele": "C",
          "end": 5230,
          "referenceAllele": "T",
          "start": 5229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.5030T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Leu1677Pro",
        "hgvsWellDefined": "NP_001070651.1:p.Leu1677Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825577598",
      "coordinates": [
        {
          "allele": "C",
          "end": 5362,
          "referenceAllele": "T",
          "start": 5361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.5162T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Leu1721Pro",
        "hgvsWellDefined": "NP_001107854.1:p.Leu1721Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827005505",
      "coordinates": [
        {
          "allele": "C",
          "end": 5122,
          "referenceAllele": "T",
          "start": 5121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.4922T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Leu1641Pro",
        "hgvsWellDefined": "NP_001305756.1:p.Leu1641Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827010431",
      "coordinates": [
        {
          "allele": "C",
          "end": 5066,
          "referenceAllele": "T",
          "start": 5065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.4886T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Leu1629Pro",
        "hgvsWellDefined": "NP_001305758.1:p.Leu1629Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827016449",
      "coordinates": [
        {
          "allele": "C",
          "end": 4925,
          "referenceAllele": "T",
          "start": 4924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.4499T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Leu1500Pro",
        "hgvsWellDefined": "NP_001305760.1:p.Leu1500Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827020963",
      "coordinates": [
        {
          "allele": "C",
          "end": 5131,
          "referenceAllele": "T",
          "start": 5130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.5063T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Leu1688Pro",
        "hgvsWellDefined": "NP_001305761.1:p.Leu1688Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828095378",
      "coordinates": [
        {
          "allele": "C",
          "end": 5233,
          "referenceAllele": "T",
          "start": 5232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.5033T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Leu1678Pro",
        "hgvsWellDefined": "NP_001350457.1:p.Leu1678Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829983628",
      "coordinates": [
        {
          "allele": "C",
          "end": 5212,
          "referenceAllele": "T",
          "start": 5211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.5102T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Leu1701Pro",
        "hgvsWellDefined": "NP_066399.2:p.Leu1701Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5120,
          "referenceAllele": "T",
          "start": 5119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.5033T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Leu1678Pro",
        "hgvsWellDefined": "XP_005255588.2:p.Leu1678Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5372,
          "referenceAllele": "T",
          "start": 5371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.5285T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Leu1762Pro",
        "hgvsWellDefined": "XP_011520938.1:p.Leu1762Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5369,
          "referenceAllele": "T",
          "start": 5368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.5282T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Leu1761Pro",
        "hgvsWellDefined": "XP_011520939.1:p.Leu1761Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5465,
          "referenceAllele": "T",
          "start": 5464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.5447T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Leu1816Pro",
        "hgvsWellDefined": "XP_011520940.2:p.Leu1816Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5243,
          "referenceAllele": "T",
          "start": 5242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.5156T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Leu1719Pro",
        "hgvsWellDefined": "XP_011520941.1:p.Leu1719Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5240,
          "referenceAllele": "T",
          "start": 5239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.5153T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Leu1718Pro",
        "hgvsWellDefined": "XP_011520942.1:p.Leu1718Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5315,
          "referenceAllele": "T",
          "start": 5314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.5228T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Leu1743Pro",
        "hgvsWellDefined": "XP_016879104.1:p.Leu1743Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5186,
          "referenceAllele": "T",
          "start": 5185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.5099T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Leu1700Pro",
        "hgvsWellDefined": "XP_016879105.1:p.Leu1700Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5213,
          "referenceAllele": "T",
          "start": 5212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.5195T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Leu1732Pro",
        "hgvsWellDefined": "XP_016879106.1:p.Leu1732Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5459,
          "referenceAllele": "T",
          "start": 5458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.3941T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Leu1314Pro",
        "hgvsWellDefined": "XP_016879107.1:p.Leu1314Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5204,
          "referenceAllele": "T",
          "start": 5203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.5117T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Leu1706Pro",
        "hgvsWellDefined": "XP_024306181.1:p.Leu1706Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107894",
      "coordinates": [
        {
          "allele": "C",
          "end": 5341,
          "referenceAllele": "T",
          "start": 5340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.5231T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Leu1744Pro",
        "hgvsWellDefined": "NP_000539.2:p.Leu1744Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.5231T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.5231T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Leu1744Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Leu1744Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828415553",
      "coordinates": [
        {
          "allele": "C",
          "end": 5209,
          "referenceAllele": "T",
          "start": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.5099T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Leu1700Pro",
        "hgvsWellDefined": "NP_001357333.1:p.Leu1700Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828421672",
      "coordinates": [
        {
          "allele": "C",
          "end": 5200,
          "referenceAllele": "T",
          "start": 5199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.5090T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Leu1697Pro",
        "hgvsWellDefined": "NP_001357334.1:p.Leu1697Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825439558",
      "coordinates": [
        {
          "allele": "C",
          "end": 5140,
          "referenceAllele": "T",
          "start": 5139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.5030T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Leu1677Pro",
        "hgvsWellDefined": "NP_001070651.1:p.Leu1677Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825577598",
      "coordinates": [
        {
          "allele": "C",
          "end": 5272,
          "referenceAllele": "T",
          "start": 5271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.5162T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Leu1721Pro",
        "hgvsWellDefined": "NP_001107854.1:p.Leu1721Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827005505",
      "coordinates": [
        {
          "allele": "C",
          "end": 5032,
          "referenceAllele": "T",
          "start": 5031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.4922T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Leu1641Pro",
        "hgvsWellDefined": "NP_001305756.1:p.Leu1641Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827010431",
      "coordinates": [
        {
          "allele": "C",
          "end": 4976,
          "referenceAllele": "T",
          "start": 4975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.4886T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Leu1629Pro",
        "hgvsWellDefined": "NP_001305758.1:p.Leu1629Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827016449",
      "coordinates": [
        {
          "allele": "C",
          "end": 4835,
          "referenceAllele": "T",
          "start": 4834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.4499T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Leu1500Pro",
        "hgvsWellDefined": "NP_001305760.1:p.Leu1500Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827020963",
      "coordinates": [
        {
          "allele": "C",
          "end": 5131,
          "referenceAllele": "T",
          "start": 5130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.5063T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Leu1688Pro",
        "hgvsWellDefined": "NP_001305761.1:p.Leu1688Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828095378",
      "coordinates": [
        {
          "allele": "C",
          "end": 5143,
          "referenceAllele": "T",
          "start": 5142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.5033T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Leu1678Pro",
        "hgvsWellDefined": "NP_001350457.1:p.Leu1678Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829983628",
      "coordinates": [
        {
          "allele": "C",
          "end": 5212,
          "referenceAllele": "T",
          "start": 5211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.5102T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Leu1701Pro",
        "hgvsWellDefined": "NP_066399.2:p.Leu1701Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}