{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA041783",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203155[alleleid]",
        "alleleId": 203155,
        "preferredName": "NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207735",
        "RCV": [
          "RCV000190007",
          "RCV001016513",
          "RCV001086210",
          "RCV003996889"
        ],
        "variationId": 207735
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-2126505-A-G",
        "id": "16-2126505-A-G",
        "variant": "16:2126505 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2126505A>G?assembly=hg19",
        "id": "chr16:g.2126505A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2076504A>G?assembly=hg38",
        "id": "chr16:g.2076504A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780057014",
        "rs": 780057014
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2126505-A-G?dataset=gnomad_r2_1",
        "id": "16-2126505-A-G",
        "variant": "16:2126505 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2076504-A-G?dataset=gnomad_r3",
        "id": "16-2076504-A-G",
        "variant": "16:2076504 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2076504-A-G?dataset=gnomad_r4",
        "id": "16-2076504-A-G",
        "variant": "16:2076504 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2076504,
          "referenceAllele": "A",
          "start": 2076503
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2076504A>G",
        "CM000678.2:g.2076504A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2126505,
          "referenceAllele": "A",
          "start": 2126504
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2126505A>G",
        "CM000678.1:g.2126505A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2066506,
          "referenceAllele": "A",
          "start": 2066505
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2066506A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32199,
          "referenceAllele": "A",
          "start": 32198
        }
      ],
      "hgvs": [
        "NG_005895.1:g.32199A>G",
        "LRG_487:g.32199A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2785,
          "referenceAllele": "A",
          "start": 2784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*1303A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*1303A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2917,
          "referenceAllele": "A",
          "start": 2916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.2801A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Asn934Ser",
        "hgvsWellDefined": "ENSP00000495146.2:p.Asn934Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2827,
          "referenceAllele": "A",
          "start": 2826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000495459.2:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2848,
          "referenceAllele": "A",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*2193A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*2193A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4148,
          "referenceAllele": "A",
          "start": 4147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*3810A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*3810A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2866,
          "referenceAllele": "A",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000219476.3:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.2756A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.2756A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Asn919Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Asn919Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2831,
          "referenceAllele": "A",
          "start": 2830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000344383.4:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2862,
          "referenceAllele": "A",
          "start": 2861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000384468.2:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 116,
          "referenceAllele": "A",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000471143.6:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458541.2:n.116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2857,
          "referenceAllele": "A",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.2789A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Asn930Ser",
        "hgvsWellDefined": "ENSP00000454487.1:p.Asn930Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "A",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.1413A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2808,
          "referenceAllele": "A",
          "start": 2807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000495099.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2810,
          "referenceAllele": "A",
          "start": 2809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000493846.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2865,
          "referenceAllele": "A",
          "start": 2864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000494514.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2874,
          "referenceAllele": "A",
          "start": 2873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000494747.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2874,
          "referenceAllele": "A",
          "start": 2873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000495927.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2810,
          "referenceAllele": "A",
          "start": 2809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000496262.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2818,
          "referenceAllele": "A",
          "start": 2817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000496611.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2856,
          "referenceAllele": "A",
          "start": 2855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000496317.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2749,
          "referenceAllele": "A",
          "start": 2748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.2749A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1038,
          "referenceAllele": "A",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.1038A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48,
          "referenceAllele": "A",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645192.1:n.48A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2842,
          "referenceAllele": "A",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000495921.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1769,
          "referenceAllele": "A",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.1769A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3386,
          "referenceAllele": "A",
          "start": 3385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000219476.3:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2831,
          "referenceAllele": "A",
          "start": 2830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000344383.4:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2704,
          "referenceAllele": "A",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.2609A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Asn870Ser",
        "hgvsWellDefined": "ENSP00000371978.6:p.Asn870Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2862,
          "referenceAllele": "A",
          "start": 2861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Asn919Ser",
        "hgvsWellDefined": "ENSP00000384468.2:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2444,
          "referenceAllele": "A",
          "start": 2443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*2055A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*2055A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2726,
          "referenceAllele": "A",
          "start": 2725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.2645A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Asn882Ser",
        "hgvsWellDefined": "ENSP00000399232.2:p.Asn882Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 114,
          "referenceAllele": "A",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000471143.5:c.114A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 125,
          "referenceAllele": "A",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000483020.5:c.125A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460310.1:n.125A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322585"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2857,
          "referenceAllele": "A",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.2789A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Asn930Ser",
        "hgvsWellDefined": "ENSP00000454487.1:p.Asn930Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319488",
      "coordinates": [
        {
          "allele": "G",
          "end": 2862,
          "referenceAllele": "A",
          "start": 2861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.2756A>G",
        "LRG_487t1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Asn919Ser",
        "hgvsWellDefined": "NP_000539.2:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825436927",
      "coordinates": [
        {
          "allele": "G",
          "end": 2862,
          "referenceAllele": "A",
          "start": 2861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Asn919Ser",
        "hgvsWellDefined": "NP_001070651.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825574945",
      "coordinates": [
        {
          "allele": "G",
          "end": 2862,
          "referenceAllele": "A",
          "start": 2861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Asn919Ser",
        "hgvsWellDefined": "NP_001107854.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Asn919Ser",
        "hgvsWellDefined": "XP_005255586.2:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Asn919Ser",
        "hgvsWellDefined": "XP_005255588.2:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Asn919Ser",
        "hgvsWellDefined": "XP_011520938.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Asn919Ser",
        "hgvsWellDefined": "XP_011520939.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2804,
          "referenceAllele": "A",
          "start": 2803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.2645A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Asn882Ser",
        "hgvsWellDefined": "XP_011520940.1:p.Asn882Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Asn919Ser",
        "hgvsWellDefined": "XP_011520941.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Asn919Ser",
        "hgvsWellDefined": "XP_011520942.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2804,
          "referenceAllele": "A",
          "start": 2803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.2645A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Asn882Ser",
        "hgvsWellDefined": "XP_011520943.1:p.Asn882Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319488",
      "coordinates": [
        {
          "allele": "G",
          "end": 2956,
          "referenceAllele": "A",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Asn919Ser",
        "hgvsWellDefined": "NP_000539.2:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825436927",
      "coordinates": [
        {
          "allele": "G",
          "end": 2956,
          "referenceAllele": "A",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Asn919Ser",
        "hgvsWellDefined": "NP_001070651.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825574945",
      "coordinates": [
        {
          "allele": "G",
          "end": 2956,
          "referenceAllele": "A",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Asn919Ser",
        "hgvsWellDefined": "NP_001107854.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827002898",
      "coordinates": [
        {
          "allele": "G",
          "end": 2845,
          "referenceAllele": "A",
          "start": 2844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.2645A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Asn882Ser",
        "hgvsWellDefined": "NP_001305756.1:p.Asn882Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827008229",
      "coordinates": [
        {
          "allele": "G",
          "end": 2789,
          "referenceAllele": "A",
          "start": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.2609A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Asn870Ser",
        "hgvsWellDefined": "NP_001305758.1:p.Asn870Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827014004",
      "coordinates": [
        {
          "allele": "G",
          "end": 2582,
          "referenceAllele": "A",
          "start": 2581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.2156A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Asn719Ser",
        "hgvsWellDefined": "NP_001305760.1:p.Asn719Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024005",
      "coordinates": [
        {
          "allele": "G",
          "end": 2857,
          "referenceAllele": "A",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.2789A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Asn930Ser",
        "hgvsWellDefined": "NP_001305761.1:p.Asn930Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828092705",
      "coordinates": [
        {
          "allele": "G",
          "end": 2956,
          "referenceAllele": "A",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Asn919Ser",
        "hgvsWellDefined": "NP_001350457.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829977566",
      "coordinates": [
        {
          "allele": "G",
          "end": 2866,
          "referenceAllele": "A",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Asn919Ser",
        "hgvsWellDefined": "NP_066399.2:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Asn919Ser",
        "hgvsWellDefined": "XP_005255588.2:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Asn919Ser",
        "hgvsWellDefined": "XP_011520938.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Asn919Ser",
        "hgvsWellDefined": "XP_011520939.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2936,
          "referenceAllele": "A",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.2918A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Asn973Ser",
        "hgvsWellDefined": "XP_011520940.2:p.Asn973Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Asn919Ser",
        "hgvsWellDefined": "XP_011520941.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Asn919Ser",
        "hgvsWellDefined": "XP_011520942.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Asn919Ser",
        "hgvsWellDefined": "XP_016879104.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Asn919Ser",
        "hgvsWellDefined": "XP_016879105.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2936,
          "referenceAllele": "A",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.2918A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Asn973Ser",
        "hgvsWellDefined": "XP_016879106.1:p.Asn973Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2930,
          "referenceAllele": "A",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.1412A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Asn471Ser",
        "hgvsWellDefined": "XP_016879107.1:p.Asn471Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2843,
          "referenceAllele": "A",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Asn919Ser",
        "hgvsWellDefined": "XP_024306181.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319488",
      "coordinates": [
        {
          "allele": "G",
          "end": 2866,
          "referenceAllele": "A",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Asn919Ser",
        "hgvsWellDefined": "NP_000539.2:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.2756A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.2756A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Asn919Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Asn919Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828412819",
      "coordinates": [
        {
          "allele": "G",
          "end": 2866,
          "referenceAllele": "A",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Asn919Ser",
        "hgvsWellDefined": "NP_001357333.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828418954",
      "coordinates": [
        {
          "allele": "G",
          "end": 2866,
          "referenceAllele": "A",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Asn919Ser",
        "hgvsWellDefined": "NP_001357334.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825436927",
      "coordinates": [
        {
          "allele": "G",
          "end": 2866,
          "referenceAllele": "A",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Asn919Ser",
        "hgvsWellDefined": "NP_001070651.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825574945",
      "coordinates": [
        {
          "allele": "G",
          "end": 2866,
          "referenceAllele": "A",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Asn919Ser",
        "hgvsWellDefined": "NP_001107854.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827002898",
      "coordinates": [
        {
          "allele": "G",
          "end": 2755,
          "referenceAllele": "A",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.2645A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Asn882Ser",
        "hgvsWellDefined": "NP_001305756.1:p.Asn882Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827008229",
      "coordinates": [
        {
          "allele": "G",
          "end": 2699,
          "referenceAllele": "A",
          "start": 2698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.2609A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Asn870Ser",
        "hgvsWellDefined": "NP_001305758.1:p.Asn870Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827014004",
      "coordinates": [
        {
          "allele": "G",
          "end": 2492,
          "referenceAllele": "A",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.2156A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Asn719Ser",
        "hgvsWellDefined": "NP_001305760.1:p.Asn719Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024005",
      "coordinates": [
        {
          "allele": "G",
          "end": 2857,
          "referenceAllele": "A",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.2789A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Asn930Ser",
        "hgvsWellDefined": "NP_001305761.1:p.Asn930Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828092705",
      "coordinates": [
        {
          "allele": "G",
          "end": 2866,
          "referenceAllele": "A",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Asn919Ser",
        "hgvsWellDefined": "NP_001350457.1:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829977566",
      "coordinates": [
        {
          "allele": "G",
          "end": 2866,
          "referenceAllele": "A",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Asn919Ser",
        "hgvsWellDefined": "NP_066399.2:p.Asn919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}