{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA021233",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58493[alleleid]",
        "alleleId": 58493,
        "preferredName": "NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49331",
        "RCV": [
          "RCV000042591",
          "RCV000125693",
          "RCV000163430",
          "RCV000227843",
          "RCV001579733"
        ],
        "variationId": 49331
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-2136794-G-A",
        "id": "16-2136794-G-A",
        "variant": "16:2136794 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2136794G>A?assembly=hg19",
        "id": "chr16:g.2136794G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2086793G>A?assembly=hg38",
        "id": "chr16:g.2086793G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35282988",
        "rs": 35282988
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2136794-G-A?dataset=gnomad_r2_1",
        "id": "16-2136794-G-A",
        "variant": "16:2136794 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2086793-G-A?dataset=gnomad_r3",
        "id": "16-2086793-G-A",
        "variant": "16:2086793 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2086793-G-A?dataset=gnomad_r4",
        "id": "16-2086793-G-A",
        "variant": "16:2086793 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2086793,
          "referenceAllele": "G",
          "start": 2086792
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2086793G>A",
        "CM000678.2:g.2086793G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2136794,
          "referenceAllele": "G",
          "start": 2136793
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2136794G>A",
        "CM000678.1:g.2136794G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2076795,
          "referenceAllele": "G",
          "start": 2076794
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2076795G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42488,
          "referenceAllele": "G",
          "start": 42487
        }
      ],
      "hgvs": [
        "NG_005895.1:g.42488G>A",
        "LRG_487:g.42488G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56428,
          "referenceAllele": "C",
          "start": 56427
        }
      ],
      "hgvs": [
        "NG_008617.1:g.56428C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4742,
          "referenceAllele": "G",
          "start": 4741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*3260G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*3260G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4874,
          "referenceAllele": "G",
          "start": 4873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.4758G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Lys1586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4979,
          "referenceAllele": "G",
          "start": 4978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.4908G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Lys1636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6079,
          "referenceAllele": "G",
          "start": 6078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*5424G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*5424G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7998,
          "referenceAllele": "G",
          "start": 7997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*7660G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*7660G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5021,
          "referenceAllele": "G",
          "start": 5020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.4911G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Lys1637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4911G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4911G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Lys1637="
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Lys1637="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4917,
          "referenceAllele": "G",
          "start": 4916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.4842G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Lys1614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4816,
          "referenceAllele": "G",
          "start": 4815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.4710G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Lys1570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4811,
          "referenceAllele": "G",
          "start": 4810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.4743G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Lys1581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1134,
          "referenceAllele": "G",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.1134G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2793,
          "referenceAllele": "G",
          "start": 2792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.2793G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3565,
          "referenceAllele": "G",
          "start": 3564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.3565G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4834,
          "referenceAllele": "G",
          "start": 4833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.4782G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Lys1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642728.1:n.1093G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642791.1:n.508G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4767,
          "referenceAllele": "G",
          "start": 4766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.4713G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Lys1571="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4888,
          "referenceAllele": "G",
          "start": 4887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.4779G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Lys1593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4822,
          "referenceAllele": "G",
          "start": 4821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.4704G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Lys1568="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 925,
          "referenceAllele": "G",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643177.1:n.925G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2559,
          "referenceAllele": "G",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.2559G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4954,
          "referenceAllele": "G",
          "start": 4953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.4836G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Lys1612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4836,
          "referenceAllele": "G",
          "start": 4835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.4782G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Lys1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644278.1:n.393G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4772,
          "referenceAllele": "G",
          "start": 4771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.4710G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Lys1570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4807,
          "referenceAllele": "G",
          "start": 4806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.4707G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Lys1569="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4832,
          "referenceAllele": "G",
          "start": 4831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.4832G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2995,
          "referenceAllele": "G",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.2995G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4991,
          "referenceAllele": "G",
          "start": 4990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.4905G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Lys1635="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72,
          "referenceAllele": "G",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646557.1:n.72G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3726,
          "referenceAllele": "G",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.3726G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2163,
          "referenceAllele": "G",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.2163G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2134,
          "referenceAllele": "G",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.2134G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "referenceAllele": "G",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.2024G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5541,
          "referenceAllele": "G",
          "start": 5540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.4911G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Lys1637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4917,
          "referenceAllele": "G",
          "start": 4916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.4842G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Lys1614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4661,
          "referenceAllele": "G",
          "start": 4660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.4566G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Lys1522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4816,
          "referenceAllele": "G",
          "start": 4815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.4710G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Lys1570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4467,
          "referenceAllele": "G",
          "start": 4466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*4078G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*4078G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4683,
          "referenceAllele": "G",
          "start": 4682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.4602G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Lys1534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2634,
          "referenceAllele": "G",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.2634G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4811,
          "referenceAllele": "G",
          "start": 4810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.4743G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Lys1581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.1093G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2026,
          "referenceAllele": "G",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.2026G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188216",
      "coordinates": [
        {
          "allele": "A",
          "end": 5017,
          "referenceAllele": "G",
          "start": 5016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.4911G>A",
        "LRG_487t1:c.4911G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Lys1637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825439152",
      "coordinates": [
        {
          "allele": "A",
          "end": 4816,
          "referenceAllele": "G",
          "start": 4815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.4710G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Lys1570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825577167",
      "coordinates": [
        {
          "allele": "A",
          "end": 4948,
          "referenceAllele": "G",
          "start": 4947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.4842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Lys1614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4869,
          "referenceAllele": "G",
          "start": 4868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.4782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Lys1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4800,
          "referenceAllele": "G",
          "start": 4799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.4713G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Lys1571="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5052,
          "referenceAllele": "G",
          "start": 5051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.4965G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Lys1655="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5049,
          "referenceAllele": "G",
          "start": 5048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.4962G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Lys1654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5013,
          "referenceAllele": "G",
          "start": 5012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.4854G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Lys1618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4923,
          "referenceAllele": "G",
          "start": 4922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.4836G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Lys1612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4920,
          "referenceAllele": "G",
          "start": 4919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.4833G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Lys1611="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4761,
          "referenceAllele": "G",
          "start": 4760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.4602G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Lys1534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188216",
      "coordinates": [
        {
          "allele": "A",
          "end": 5111,
          "referenceAllele": "G",
          "start": 5110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.4911G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Lys1637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825439152",
      "coordinates": [
        {
          "allele": "A",
          "end": 4910,
          "referenceAllele": "G",
          "start": 4909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.4710G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Lys1570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825577167",
      "coordinates": [
        {
          "allele": "A",
          "end": 5042,
          "referenceAllele": "G",
          "start": 5041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.4842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Lys1614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827005075",
      "coordinates": [
        {
          "allele": "A",
          "end": 4802,
          "referenceAllele": "G",
          "start": 4801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.4602G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Lys1534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827010075",
      "coordinates": [
        {
          "allele": "A",
          "end": 4746,
          "referenceAllele": "G",
          "start": 4745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.4566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Lys1522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827016022",
      "coordinates": [
        {
          "allele": "A",
          "end": 4605,
          "referenceAllele": "G",
          "start": 4604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.4179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Lys1393="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827020534",
      "coordinates": [
        {
          "allele": "A",
          "end": 4811,
          "referenceAllele": "G",
          "start": 4810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.4743G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Lys1581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828094947",
      "coordinates": [
        {
          "allele": "A",
          "end": 4913,
          "referenceAllele": "G",
          "start": 4912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.4713G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Lys1571="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829982445",
      "coordinates": [
        {
          "allele": "A",
          "end": 4892,
          "referenceAllele": "G",
          "start": 4891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.4782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Lys1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4800,
          "referenceAllele": "G",
          "start": 4799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.4713G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Lys1571="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5052,
          "referenceAllele": "G",
          "start": 5051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.4965G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Lys1655="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5049,
          "referenceAllele": "G",
          "start": 5048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.4962G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Lys1654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5145,
          "referenceAllele": "G",
          "start": 5144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.5127G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Lys1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4923,
          "referenceAllele": "G",
          "start": 4922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.4836G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Lys1612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4920,
          "referenceAllele": "G",
          "start": 4919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.4833G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Lys1611="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4995,
          "referenceAllele": "G",
          "start": 4994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.4908G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Lys1636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4866,
          "referenceAllele": "G",
          "start": 4865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.4779G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Lys1593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4893,
          "referenceAllele": "G",
          "start": 4892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.4875G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Lys1625="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5139,
          "referenceAllele": "G",
          "start": 5138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.3621G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Lys1207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4797,
          "referenceAllele": "G",
          "start": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.4710G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Lys1570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188216",
      "coordinates": [
        {
          "allele": "A",
          "end": 5021,
          "referenceAllele": "G",
          "start": 5020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.4911G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Lys1637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4911G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4911G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Lys1637="
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Lys1637="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828415122",
      "coordinates": [
        {
          "allele": "A",
          "end": 4889,
          "referenceAllele": "G",
          "start": 4888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.4779G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Lys1593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828421264",
      "coordinates": [
        {
          "allele": "A",
          "end": 4892,
          "referenceAllele": "G",
          "start": 4891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.4782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Lys1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825439152",
      "coordinates": [
        {
          "allele": "A",
          "end": 4820,
          "referenceAllele": "G",
          "start": 4819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.4710G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Lys1570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825577167",
      "coordinates": [
        {
          "allele": "A",
          "end": 4952,
          "referenceAllele": "G",
          "start": 4951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.4842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Lys1614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827005075",
      "coordinates": [
        {
          "allele": "A",
          "end": 4712,
          "referenceAllele": "G",
          "start": 4711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.4602G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Lys1534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827010075",
      "coordinates": [
        {
          "allele": "A",
          "end": 4656,
          "referenceAllele": "G",
          "start": 4655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.4566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Lys1522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827016022",
      "coordinates": [
        {
          "allele": "A",
          "end": 4515,
          "referenceAllele": "G",
          "start": 4514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.4179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Lys1393="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827020534",
      "coordinates": [
        {
          "allele": "A",
          "end": 4811,
          "referenceAllele": "G",
          "start": 4810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.4743G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Lys1581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828094947",
      "coordinates": [
        {
          "allele": "A",
          "end": 4823,
          "referenceAllele": "G",
          "start": 4822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.4713G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Lys1571="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829982445",
      "coordinates": [
        {
          "allele": "A",
          "end": 4892,
          "referenceAllele": "G",
          "start": 4891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.4782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Lys1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}