{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA019256",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=184139[alleleid]",
        "alleleId": 184139,
        "preferredName": "NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/184243",
        "RCV": [
          "RCV000163457",
          "RCV000430228",
          "RCV001083093",
          "RCV003995258"
        ],
        "variationId": 184243
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-2130303-G-A",
        "id": "16-2130303-G-A",
        "variant": "16:2130303 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2130303G>A?assembly=hg19",
        "id": "chr16:g.2130303G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2080302G>A?assembly=hg38",
        "id": "chr16:g.2080302G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/45483391",
        "rs": 45483391
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2130303-G-A?dataset=gnomad_r2_1",
        "id": "16-2130303-G-A",
        "variant": "16:2130303 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2080302-G-A?dataset=gnomad_r3",
        "id": "16-2080302-G-A",
        "variant": "16:2080302 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2080302-G-A?dataset=gnomad_r4",
        "id": "16-2080302-G-A",
        "variant": "16:2080302 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2080302,
          "referenceAllele": "G",
          "start": 2080301
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2080302G>A",
        "CM000678.2:g.2080302G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2130303,
          "referenceAllele": "G",
          "start": 2130302
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2130303G>A",
        "CM000678.1:g.2130303G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2070304,
          "referenceAllele": "G",
          "start": 2070303
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2070304G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35997,
          "referenceAllele": "G",
          "start": 35996
        }
      ],
      "hgvs": [
        "NG_005895.1:g.35997G>A",
        "LRG_487:g.35997G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3435,
          "referenceAllele": "G",
          "start": 3434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*1953G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*1953G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3567,
          "referenceAllele": "G",
          "start": 3566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.3451G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Glu1151Lys",
        "hgvsWellDefined": "ENSP00000495146.2:p.Glu1151Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3603,
          "referenceAllele": "G",
          "start": 3602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.3532G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Glu1178Lys",
        "hgvsWellDefined": "ENSP00000495459.2:p.Glu1178Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4639,
          "referenceAllele": "G",
          "start": 4638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*3984G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*3984G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4795,
          "referenceAllele": "G",
          "start": 4794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*4457G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*4457G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3645,
          "referenceAllele": "G",
          "start": 3644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Glu1179Lys",
        "hgvsWellDefined": "ENSP00000219476.3:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.3535G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.3535G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Glu1179Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Glu1179Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3610,
          "referenceAllele": "G",
          "start": 3609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Glu1179Lys",
        "hgvsWellDefined": "ENSP00000344383.4:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3509,
          "referenceAllele": "G",
          "start": 3508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.3403G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Glu1135Lys",
        "hgvsWellDefined": "ENSP00000384468.2:p.Glu1135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3504,
          "referenceAllele": "G",
          "start": 3503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.3436G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Glu1146Lys",
        "hgvsWellDefined": "ENSP00000454487.1:p.Glu1146Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2189,
          "referenceAllele": "G",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.2189G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3458,
          "referenceAllele": "G",
          "start": 3457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Glu1136Lys",
        "hgvsWellDefined": "ENSP00000495099.1:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3460,
          "referenceAllele": "G",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Glu1136Lys",
        "hgvsWellDefined": "ENSP00000493846.1:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3512,
          "referenceAllele": "G",
          "start": 3511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.3403G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Glu1135Lys",
        "hgvsWellDefined": "ENSP00000494514.1:p.Glu1135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3521,
          "referenceAllele": "G",
          "start": 3520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.3403G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Glu1135Lys",
        "hgvsWellDefined": "ENSP00000494747.1:p.Glu1135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3653,
          "referenceAllele": "G",
          "start": 3652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Glu1179Lys",
        "hgvsWellDefined": "ENSP00000495927.1:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3460,
          "referenceAllele": "G",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Glu1136Lys",
        "hgvsWellDefined": "ENSP00000496262.1:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3465,
          "referenceAllele": "G",
          "start": 3464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.3403G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Glu1135Lys",
        "hgvsWellDefined": "ENSP00000496611.1:p.Glu1135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3506,
          "referenceAllele": "G",
          "start": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Glu1136Lys",
        "hgvsWellDefined": "ENSP00000496317.1:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3525,
          "referenceAllele": "G",
          "start": 3524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.3525G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 681,
          "referenceAllele": "G",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644722.1:n.681G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1688,
          "referenceAllele": "G",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.1688G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3621,
          "referenceAllele": "G",
          "start": 3620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Glu1179Lys",
        "hgvsWellDefined": "ENSP00000495921.1:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2419,
          "referenceAllele": "G",
          "start": 2418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.2419G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.150G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 827,
          "referenceAllele": "G",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.827G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15,
          "referenceAllele": "G",
          "start": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.15G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4165,
          "referenceAllele": "G",
          "start": 4164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Glu1179Lys",
        "hgvsWellDefined": "ENSP00000219476.3:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3610,
          "referenceAllele": "G",
          "start": 3609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Glu1179Lys",
        "hgvsWellDefined": "ENSP00000344383.4:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3354,
          "referenceAllele": "G",
          "start": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.3259G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Glu1087Lys",
        "hgvsWellDefined": "ENSP00000371978.6:p.Glu1087Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3509,
          "referenceAllele": "G",
          "start": 3508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.3403G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Glu1135Lys",
        "hgvsWellDefined": "ENSP00000384468.2:p.Glu1135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3091,
          "referenceAllele": "G",
          "start": 3090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*2702G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*2702G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3376,
          "referenceAllele": "G",
          "start": 3375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.3295G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Glu1099Lys",
        "hgvsWellDefined": "ENSP00000399232.2:p.Glu1099Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1362,
          "referenceAllele": "G",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.1362G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3504,
          "referenceAllele": "G",
          "start": 3503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.3436G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Glu1146Lys",
        "hgvsWellDefined": "ENSP00000454487.1:p.Glu1146Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA188338",
      "coordinates": [
        {
          "allele": "A",
          "end": 3641,
          "referenceAllele": "G",
          "start": 3640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.3535G>A",
        "LRG_487t1:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Glu1179Lys",
        "hgvsWellDefined": "NP_000539.2:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825437631",
      "coordinates": [
        {
          "allele": "A",
          "end": 3509,
          "referenceAllele": "G",
          "start": 3508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.3403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Glu1135Lys",
        "hgvsWellDefined": "NP_001070651.1:p.Glu1135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825575698",
      "coordinates": [
        {
          "allele": "A",
          "end": 3641,
          "referenceAllele": "G",
          "start": 3640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Glu1179Lys",
        "hgvsWellDefined": "NP_001107854.1:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3493,
          "referenceAllele": "G",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Glu1136Lys",
        "hgvsWellDefined": "XP_005255586.2:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3493,
          "referenceAllele": "G",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Glu1136Lys",
        "hgvsWellDefined": "XP_005255588.2:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3622,
          "referenceAllele": "G",
          "start": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Glu1179Lys",
        "hgvsWellDefined": "XP_011520938.1:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3619,
          "referenceAllele": "G",
          "start": 3618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.3532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Glu1178Lys",
        "hgvsWellDefined": "XP_011520939.1:p.Glu1178Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3583,
          "referenceAllele": "G",
          "start": 3582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.3424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Glu1142Lys",
        "hgvsWellDefined": "XP_011520940.1:p.Glu1142Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3493,
          "referenceAllele": "G",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Glu1136Lys",
        "hgvsWellDefined": "XP_011520941.1:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3490,
          "referenceAllele": "G",
          "start": 3489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.3403G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Glu1135Lys",
        "hgvsWellDefined": "XP_011520942.1:p.Glu1135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3454,
          "referenceAllele": "G",
          "start": 3453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.3295G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Glu1099Lys",
        "hgvsWellDefined": "XP_011520943.1:p.Glu1099Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA188338",
      "coordinates": [
        {
          "allele": "A",
          "end": 3735,
          "referenceAllele": "G",
          "start": 3734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Glu1179Lys",
        "hgvsWellDefined": "NP_000539.2:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825437631",
      "coordinates": [
        {
          "allele": "A",
          "end": 3603,
          "referenceAllele": "G",
          "start": 3602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.3403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Glu1135Lys",
        "hgvsWellDefined": "NP_001070651.1:p.Glu1135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825575698",
      "coordinates": [
        {
          "allele": "A",
          "end": 3735,
          "referenceAllele": "G",
          "start": 3734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Glu1179Lys",
        "hgvsWellDefined": "NP_001107854.1:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827003555",
      "coordinates": [
        {
          "allele": "A",
          "end": 3495,
          "referenceAllele": "G",
          "start": 3494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.3295G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Glu1099Lys",
        "hgvsWellDefined": "NP_001305756.1:p.Glu1099Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827008748",
      "coordinates": [
        {
          "allele": "A",
          "end": 3439,
          "referenceAllele": "G",
          "start": 3438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.3259G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Glu1087Lys",
        "hgvsWellDefined": "NP_001305758.1:p.Glu1087Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916023107",
      "coordinates": [
        {
          "allele": "A",
          "end": 3229,
          "referenceAllele": "G",
          "start": 3228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.2803G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Glu935Lys",
        "hgvsWellDefined": "NP_001305760.1:p.Glu935Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827019012",
      "coordinates": [
        {
          "allele": "A",
          "end": 3504,
          "referenceAllele": "G",
          "start": 3503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.3436G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Glu1146Lys",
        "hgvsWellDefined": "NP_001305761.1:p.Glu1146Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828093426",
      "coordinates": [
        {
          "allele": "A",
          "end": 3606,
          "referenceAllele": "G",
          "start": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Glu1136Lys",
        "hgvsWellDefined": "NP_001350457.1:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829979210",
      "coordinates": [
        {
          "allele": "A",
          "end": 3516,
          "referenceAllele": "G",
          "start": 3515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Glu1136Lys",
        "hgvsWellDefined": "NP_066399.2:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3493,
          "referenceAllele": "G",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Glu1136Lys",
        "hgvsWellDefined": "XP_005255588.2:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3622,
          "referenceAllele": "G",
          "start": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Glu1179Lys",
        "hgvsWellDefined": "XP_011520938.1:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3619,
          "referenceAllele": "G",
          "start": 3618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.3532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Glu1178Lys",
        "hgvsWellDefined": "XP_011520939.1:p.Glu1178Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3715,
          "referenceAllele": "G",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.3697G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Glu1233Lys",
        "hgvsWellDefined": "XP_011520940.2:p.Glu1233Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3493,
          "referenceAllele": "G",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Glu1136Lys",
        "hgvsWellDefined": "XP_011520941.1:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3490,
          "referenceAllele": "G",
          "start": 3489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.3403G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Glu1135Lys",
        "hgvsWellDefined": "XP_011520942.1:p.Glu1135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3619,
          "referenceAllele": "G",
          "start": 3618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.3532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Glu1178Lys",
        "hgvsWellDefined": "XP_016879104.1:p.Glu1178Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3490,
          "referenceAllele": "G",
          "start": 3489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.3403G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Glu1135Lys",
        "hgvsWellDefined": "XP_016879105.1:p.Glu1135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3586,
          "referenceAllele": "G",
          "start": 3585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.3568G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Glu1190Lys",
        "hgvsWellDefined": "XP_016879106.1:p.Glu1190Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3709,
          "referenceAllele": "G",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.2191G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Glu731Lys",
        "hgvsWellDefined": "XP_016879107.1:p.Glu731Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3490,
          "referenceAllele": "G",
          "start": 3489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3403G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Glu1135Lys",
        "hgvsWellDefined": "XP_024306181.1:p.Glu1135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA188338",
      "coordinates": [
        {
          "allele": "A",
          "end": 3645,
          "referenceAllele": "G",
          "start": 3644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Glu1179Lys",
        "hgvsWellDefined": "NP_000539.2:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.3535G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.3535G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Glu1179Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Glu1179Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828413537",
      "coordinates": [
        {
          "allele": "A",
          "end": 3513,
          "referenceAllele": "G",
          "start": 3512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.3403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Glu1135Lys",
        "hgvsWellDefined": "NP_001357333.1:p.Glu1135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828419677",
      "coordinates": [
        {
          "allele": "A",
          "end": 3516,
          "referenceAllele": "G",
          "start": 3515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Glu1136Lys",
        "hgvsWellDefined": "NP_001357334.1:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825437631",
      "coordinates": [
        {
          "allele": "A",
          "end": 3513,
          "referenceAllele": "G",
          "start": 3512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Glu1135Lys",
        "hgvsWellDefined": "NP_001070651.1:p.Glu1135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825575698",
      "coordinates": [
        {
          "allele": "A",
          "end": 3645,
          "referenceAllele": "G",
          "start": 3644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Glu1179Lys",
        "hgvsWellDefined": "NP_001107854.1:p.Glu1179Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827003555",
      "coordinates": [
        {
          "allele": "A",
          "end": 3405,
          "referenceAllele": "G",
          "start": 3404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3295G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Glu1099Lys",
        "hgvsWellDefined": "NP_001305756.1:p.Glu1099Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827008748",
      "coordinates": [
        {
          "allele": "A",
          "end": 3349,
          "referenceAllele": "G",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3259G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Glu1087Lys",
        "hgvsWellDefined": "NP_001305758.1:p.Glu1087Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916023107",
      "coordinates": [
        {
          "allele": "A",
          "end": 3139,
          "referenceAllele": "G",
          "start": 3138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.2803G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Glu935Lys",
        "hgvsWellDefined": "NP_001305760.1:p.Glu935Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827019012",
      "coordinates": [
        {
          "allele": "A",
          "end": 3504,
          "referenceAllele": "G",
          "start": 3503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3436G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Glu1146Lys",
        "hgvsWellDefined": "NP_001305761.1:p.Glu1146Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828093426",
      "coordinates": [
        {
          "allele": "A",
          "end": 3516,
          "referenceAllele": "G",
          "start": 3515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Glu1136Lys",
        "hgvsWellDefined": "NP_001350457.1:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829979210",
      "coordinates": [
        {
          "allele": "A",
          "end": 3516,
          "referenceAllele": "G",
          "start": 3515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.3406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Glu1136Lys",
        "hgvsWellDefined": "NP_066399.2:p.Glu1136Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}