{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA021894",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58514[alleleid]",
        "alleleId": 58514,
        "preferredName": "NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49352",
        "RCV": [
          "RCV000042612",
          "RCV000190040",
          "RCV001797601"
        ],
        "variationId": 49352
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2138130T>C?assembly=hg19",
        "id": "chr16:g.2138130T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2088129T>C?assembly=hg38",
        "id": "chr16:g.2088129T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/45517398",
        "rs": 45517398
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2088129,
          "referenceAllele": "T",
          "start": 2088128
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2088129T>C",
        "CM000678.2:g.2088129T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2138130,
          "referenceAllele": "T",
          "start": 2138129
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2138130T>C",
        "CM000678.1:g.2138130T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2078131,
          "referenceAllele": "T",
          "start": 2078130
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2078131T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43824,
          "referenceAllele": "T",
          "start": 43823
        }
      ],
      "hgvs": [
        "NG_005895.1:g.43824T>C",
        "LRG_487:g.43824T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 55092,
          "referenceAllele": "A",
          "start": 55091
        }
      ],
      "hgvs": [
        "NG_008617.1:g.55092A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4981,
          "referenceAllele": "T",
          "start": 4980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*3499T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*3499T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5113,
          "referenceAllele": "T",
          "start": 5112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.4997T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Leu1666Pro",
        "hgvsWellDefined": "ENSP00000495146.2:p.Leu1666Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5218,
          "referenceAllele": "T",
          "start": 5217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.5147T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Leu1716Pro",
        "hgvsWellDefined": "ENSP00000495459.2:p.Leu1716Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6318,
          "referenceAllele": "T",
          "start": 6317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*5663T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*5663T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8237,
          "referenceAllele": "T",
          "start": 8236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*7899T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*7899T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5260,
          "referenceAllele": "T",
          "start": 5259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.5150T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Leu1717Pro",
        "hgvsWellDefined": "ENSP00000219476.3:p.Leu1717Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.5150T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.5150T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Leu1717Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Leu1717Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5156,
          "referenceAllele": "T",
          "start": 5155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.5081T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Leu1694Pro",
        "hgvsWellDefined": "ENSP00000344383.4:p.Leu1694Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "T",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Leu1650Pro",
        "hgvsWellDefined": "ENSP00000384468.2:p.Leu1650Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5050,
          "referenceAllele": "T",
          "start": 5049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Leu1661Pro",
        "hgvsWellDefined": "ENSP00000454487.1:p.Leu1661Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1373,
          "referenceAllele": "T",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.1373T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3032,
          "referenceAllele": "T",
          "start": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.3032T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3804,
          "referenceAllele": "T",
          "start": 3803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.3804T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5073,
          "referenceAllele": "T",
          "start": 5072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.5021T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Leu1674Pro",
        "hgvsWellDefined": "ENSP00000495099.1:p.Leu1674Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 747,
          "referenceAllele": "T",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642791.1:n.747T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5006,
          "referenceAllele": "T",
          "start": 5005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.4952T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Leu1651Pro",
        "hgvsWellDefined": "ENSP00000493846.1:p.Leu1651Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5127,
          "referenceAllele": "T",
          "start": 5126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.5018T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Leu1673Pro",
        "hgvsWellDefined": "ENSP00000494514.1:p.Leu1673Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5061,
          "referenceAllele": "T",
          "start": 5060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.4943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Leu1648Pro",
        "hgvsWellDefined": "ENSP00000494747.1:p.Leu1648Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2798,
          "referenceAllele": "T",
          "start": 2797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.2798T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5193,
          "referenceAllele": "T",
          "start": 5192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.5075T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Leu1692Pro",
        "hgvsWellDefined": "ENSP00000495927.1:p.Leu1692Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5075,
          "referenceAllele": "T",
          "start": 5074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.5021T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Leu1674Pro",
        "hgvsWellDefined": "ENSP00000496262.1:p.Leu1674Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5011,
          "referenceAllele": "T",
          "start": 5010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Leu1650Pro",
        "hgvsWellDefined": "ENSP00000496611.1:p.Leu1650Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5046,
          "referenceAllele": "T",
          "start": 5045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.4946T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Leu1649Pro",
        "hgvsWellDefined": "ENSP00000496317.1:p.Leu1649Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5071,
          "referenceAllele": "T",
          "start": 5070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.5071T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3234,
          "referenceAllele": "T",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.3234T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5230,
          "referenceAllele": "T",
          "start": 5229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.5144T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Leu1715Pro",
        "hgvsWellDefined": "ENSP00000495921.1:p.Leu1715Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3965,
          "referenceAllele": "T",
          "start": 3964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.3965T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2402,
          "referenceAllele": "T",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.2402T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2373,
          "referenceAllele": "T",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.2373T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2263,
          "referenceAllele": "T",
          "start": 2262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.2263T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5780,
          "referenceAllele": "T",
          "start": 5779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.5150T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Leu1717Pro",
        "hgvsWellDefined": "ENSP00000219476.3:p.Leu1717Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5156,
          "referenceAllele": "T",
          "start": 5155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.5081T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Leu1694Pro",
        "hgvsWellDefined": "ENSP00000344383.4:p.Leu1694Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4900,
          "referenceAllele": "T",
          "start": 4899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.4805T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Leu1602Pro",
        "hgvsWellDefined": "ENSP00000371978.6:p.Leu1602Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "T",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Leu1650Pro",
        "hgvsWellDefined": "ENSP00000384468.2:p.Leu1650Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4706,
          "referenceAllele": "T",
          "start": 4705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*4317T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*4317T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4922,
          "referenceAllele": "T",
          "start": 4921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.4841T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Leu1614Pro",
        "hgvsWellDefined": "ENSP00000399232.2:p.Leu1614Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2873,
          "referenceAllele": "T",
          "start": 2872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.2873T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5050,
          "referenceAllele": "T",
          "start": 5049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Leu1661Pro",
        "hgvsWellDefined": "ENSP00000454487.1:p.Leu1661Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1332,
          "referenceAllele": "T",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.1332T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2265,
          "referenceAllele": "T",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.2265T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262609",
      "coordinates": [
        {
          "allele": "C",
          "end": 5256,
          "referenceAllele": "T",
          "start": 5255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.5150T>C",
        "LRG_487t1:c.5150T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Leu1717Pro",
        "hgvsWellDefined": "NP_000539.2:p.Leu1717Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825439443",
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "T",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Leu1650Pro",
        "hgvsWellDefined": "NP_001070651.1:p.Leu1650Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825577479",
      "coordinates": [
        {
          "allele": "C",
          "end": 5187,
          "referenceAllele": "T",
          "start": 5186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.5081T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Leu1694Pro",
        "hgvsWellDefined": "NP_001107854.1:p.Leu1694Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5108,
          "referenceAllele": "T",
          "start": 5107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.5021T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Leu1674Pro",
        "hgvsWellDefined": "XP_005255586.2:p.Leu1674Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5039,
          "referenceAllele": "T",
          "start": 5038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.4952T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Leu1651Pro",
        "hgvsWellDefined": "XP_005255588.2:p.Leu1651Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5291,
          "referenceAllele": "T",
          "start": 5290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.5204T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Leu1735Pro",
        "hgvsWellDefined": "XP_011520938.1:p.Leu1735Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5288,
          "referenceAllele": "T",
          "start": 5287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.5201T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Leu1734Pro",
        "hgvsWellDefined": "XP_011520939.1:p.Leu1734Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5252,
          "referenceAllele": "T",
          "start": 5251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.5093T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Leu1698Pro",
        "hgvsWellDefined": "XP_011520940.1:p.Leu1698Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5162,
          "referenceAllele": "T",
          "start": 5161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.5075T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Leu1692Pro",
        "hgvsWellDefined": "XP_011520941.1:p.Leu1692Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5159,
          "referenceAllele": "T",
          "start": 5158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.5072T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Leu1691Pro",
        "hgvsWellDefined": "XP_011520942.1:p.Leu1691Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5000,
          "referenceAllele": "T",
          "start": 4999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.4841T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Leu1614Pro",
        "hgvsWellDefined": "XP_011520943.1:p.Leu1614Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262609",
      "coordinates": [
        {
          "allele": "C",
          "end": 5350,
          "referenceAllele": "T",
          "start": 5349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.5150T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Leu1717Pro",
        "hgvsWellDefined": "NP_000539.2:p.Leu1717Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825439443",
      "coordinates": [
        {
          "allele": "C",
          "end": 5149,
          "referenceAllele": "T",
          "start": 5148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Leu1650Pro",
        "hgvsWellDefined": "NP_001070651.1:p.Leu1650Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825577479",
      "coordinates": [
        {
          "allele": "C",
          "end": 5281,
          "referenceAllele": "T",
          "start": 5280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.5081T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Leu1694Pro",
        "hgvsWellDefined": "NP_001107854.1:p.Leu1694Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827005387",
      "coordinates": [
        {
          "allele": "C",
          "end": 5041,
          "referenceAllele": "T",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.4841T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Leu1614Pro",
        "hgvsWellDefined": "NP_001305756.1:p.Leu1614Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827010326",
      "coordinates": [
        {
          "allele": "C",
          "end": 4985,
          "referenceAllele": "T",
          "start": 4984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.4805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Leu1602Pro",
        "hgvsWellDefined": "NP_001305758.1:p.Leu1602Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827016332",
      "coordinates": [
        {
          "allele": "C",
          "end": 4844,
          "referenceAllele": "T",
          "start": 4843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.4418T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Leu1473Pro",
        "hgvsWellDefined": "NP_001305760.1:p.Leu1473Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827020843",
      "coordinates": [
        {
          "allele": "C",
          "end": 5050,
          "referenceAllele": "T",
          "start": 5049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Leu1661Pro",
        "hgvsWellDefined": "NP_001305761.1:p.Leu1661Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828095257",
      "coordinates": [
        {
          "allele": "C",
          "end": 5152,
          "referenceAllele": "T",
          "start": 5151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.4952T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Leu1651Pro",
        "hgvsWellDefined": "NP_001350457.1:p.Leu1651Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829983308",
      "coordinates": [
        {
          "allele": "C",
          "end": 5131,
          "referenceAllele": "T",
          "start": 5130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.5021T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Leu1674Pro",
        "hgvsWellDefined": "NP_066399.2:p.Leu1674Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5039,
          "referenceAllele": "T",
          "start": 5038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.4952T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Leu1651Pro",
        "hgvsWellDefined": "XP_005255588.2:p.Leu1651Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5291,
          "referenceAllele": "T",
          "start": 5290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.5204T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Leu1735Pro",
        "hgvsWellDefined": "XP_011520938.1:p.Leu1735Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5288,
          "referenceAllele": "T",
          "start": 5287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.5201T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Leu1734Pro",
        "hgvsWellDefined": "XP_011520939.1:p.Leu1734Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5384,
          "referenceAllele": "T",
          "start": 5383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.5366T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Leu1789Pro",
        "hgvsWellDefined": "XP_011520940.2:p.Leu1789Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5162,
          "referenceAllele": "T",
          "start": 5161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.5075T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Leu1692Pro",
        "hgvsWellDefined": "XP_011520941.1:p.Leu1692Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5159,
          "referenceAllele": "T",
          "start": 5158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.5072T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Leu1691Pro",
        "hgvsWellDefined": "XP_011520942.1:p.Leu1691Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5234,
          "referenceAllele": "T",
          "start": 5233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.5147T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Leu1716Pro",
        "hgvsWellDefined": "XP_016879104.1:p.Leu1716Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5105,
          "referenceAllele": "T",
          "start": 5104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.5018T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Leu1673Pro",
        "hgvsWellDefined": "XP_016879105.1:p.Leu1673Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5132,
          "referenceAllele": "T",
          "start": 5131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.5114T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Leu1705Pro",
        "hgvsWellDefined": "XP_016879106.1:p.Leu1705Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5378,
          "referenceAllele": "T",
          "start": 5377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.3860T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Leu1287Pro",
        "hgvsWellDefined": "XP_016879107.1:p.Leu1287Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5036,
          "referenceAllele": "T",
          "start": 5035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Leu1650Pro",
        "hgvsWellDefined": "XP_024306181.1:p.Leu1650Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262609",
      "coordinates": [
        {
          "allele": "C",
          "end": 5260,
          "referenceAllele": "T",
          "start": 5259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.5150T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Leu1717Pro",
        "hgvsWellDefined": "NP_000539.2:p.Leu1717Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.5150T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.5150T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Leu1717Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Leu1717Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828415432",
      "coordinates": [
        {
          "allele": "C",
          "end": 5128,
          "referenceAllele": "T",
          "start": 5127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.5018T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Leu1673Pro",
        "hgvsWellDefined": "NP_001357333.1:p.Leu1673Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828421574",
      "coordinates": [
        {
          "allele": "C",
          "end": 5131,
          "referenceAllele": "T",
          "start": 5130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.5021T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Leu1674Pro",
        "hgvsWellDefined": "NP_001357334.1:p.Leu1674Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825439443",
      "coordinates": [
        {
          "allele": "C",
          "end": 5059,
          "referenceAllele": "T",
          "start": 5058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Leu1650Pro",
        "hgvsWellDefined": "NP_001070651.1:p.Leu1650Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825577479",
      "coordinates": [
        {
          "allele": "C",
          "end": 5191,
          "referenceAllele": "T",
          "start": 5190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.5081T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Leu1694Pro",
        "hgvsWellDefined": "NP_001107854.1:p.Leu1694Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827005387",
      "coordinates": [
        {
          "allele": "C",
          "end": 4951,
          "referenceAllele": "T",
          "start": 4950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.4841T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Leu1614Pro",
        "hgvsWellDefined": "NP_001305756.1:p.Leu1614Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827010326",
      "coordinates": [
        {
          "allele": "C",
          "end": 4895,
          "referenceAllele": "T",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.4805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Leu1602Pro",
        "hgvsWellDefined": "NP_001305758.1:p.Leu1602Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827016332",
      "coordinates": [
        {
          "allele": "C",
          "end": 4754,
          "referenceAllele": "T",
          "start": 4753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.4418T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Leu1473Pro",
        "hgvsWellDefined": "NP_001305760.1:p.Leu1473Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827020843",
      "coordinates": [
        {
          "allele": "C",
          "end": 5050,
          "referenceAllele": "T",
          "start": 5049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Leu1661Pro",
        "hgvsWellDefined": "NP_001305761.1:p.Leu1661Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828095257",
      "coordinates": [
        {
          "allele": "C",
          "end": 5062,
          "referenceAllele": "T",
          "start": 5061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.4952T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Leu1651Pro",
        "hgvsWellDefined": "NP_001350457.1:p.Leu1651Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829983308",
      "coordinates": [
        {
          "allele": "C",
          "end": 5131,
          "referenceAllele": "T",
          "start": 5130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.5021T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Leu1674Pro",
        "hgvsWellDefined": "NP_066399.2:p.Leu1674Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}