{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375367339",
  "communityStandardTitle": [
    "NM_000368.5(TSC1):c.3121A>C (p.Ser1041Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135771996T>G?assembly=hg19",
        "id": "chr9:g.135771996T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132896609T>G?assembly=hg38",
        "id": "chr9:g.132896609T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 132896609,
          "referenceAllele": "T",
          "start": 132896608
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132896609T>G",
        "CM000671.2:g.132896609T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 135771996,
          "referenceAllele": "T",
          "start": 135771995
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135771996T>G",
        "CM000671.1:g.135771996T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 134761817,
          "referenceAllele": "T",
          "start": 134761816
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134761817T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 53025,
          "referenceAllele": "A",
          "start": 53024
        }
      ],
      "hgvs": [
        "NG_012386.1:g.53025A>C",
        "LRG_486:g.53025A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002390"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3275,
          "referenceAllele": "A",
          "start": 3274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.7:c.3118A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496126.2:p.Ser1040Arg",
        "hgvsWellDefined": "ENSP00000496126.2:p.Ser1040Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3430,
          "referenceAllele": "A",
          "start": 3429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000490179.4:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495533.2:p.Ser1041Arg",
        "hgvsWellDefined": "ENSP00000495533.2:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3411,
          "referenceAllele": "A",
          "start": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.2:c.*977A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494743.2:n.*977A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3294,
          "referenceAllele": "A",
          "start": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.2:c.*1061A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.2:n.*1061A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914407"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2993,
          "referenceAllele": "A",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.2:c.2734A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.2:p.Ser912Arg",
        "hgvsWellDefined": "ENSP00000496398.2:p.Ser912Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3150,
          "referenceAllele": "A",
          "start": 3149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.2:c.*863A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.2:n.*863A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3036,
          "referenceAllele": "A",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.2:c.2758A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.2:p.Ser920Arg",
        "hgvsWellDefined": "ENSP00000494916.2:p.Ser920Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3303,
          "referenceAllele": "A",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.2:c.3079A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.2:p.Ser1027Arg",
        "hgvsWellDefined": "ENSP00000495428.2:p.Ser1027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3170,
          "referenceAllele": "A",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.2:c.2965A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.2:p.Ser989Arg",
        "hgvsWellDefined": "ENSP00000493639.2:p.Ser989Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3455,
          "referenceAllele": "A",
          "start": 3454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646440.2:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495830.2:p.Ser1041Arg",
        "hgvsWellDefined": "ENSP00000495830.2:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3338,
          "referenceAllele": "A",
          "start": 3337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.9:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Ser1041Arg",
        "hgvsWellDefined": "ENSP00000298552.3:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.3121A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.3121A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Ser1041Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Ser1041Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "referenceAllele": "A",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.1:c.1258A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3342,
          "referenceAllele": "A",
          "start": 3341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642617.1:c.3118A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493773.1:p.Ser1040Arg",
        "hgvsWellDefined": "ENSP00000493773.1:p.Ser1040Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3323,
          "referenceAllele": "A",
          "start": 3322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642627.1:c.3103A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496772.1:p.Ser1035Arg",
        "hgvsWellDefined": "ENSP00000496772.1:p.Ser1035Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3208,
          "referenceAllele": "A",
          "start": 3207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642811.1:c.*2891A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495554.1:n.*2891A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3185,
          "referenceAllele": "A",
          "start": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643072.1:c.2968A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496691.1:p.Ser990Arg",
        "hgvsWellDefined": "ENSP00000496691.1:p.Ser990Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1595,
          "referenceAllele": "A",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.1:c.1595A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.1:n.1595A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3322,
          "referenceAllele": "A",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643583.1:c.3106A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494685.1:p.Ser1036Arg",
        "hgvsWellDefined": "ENSP00000494685.1:p.Ser1036Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 998,
          "referenceAllele": "A",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.1:c.998A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.1:n.998A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3335,
          "referenceAllele": "A",
          "start": 3334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643875.1:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495158.1:p.Ser1041Arg",
        "hgvsWellDefined": "ENSP00000495158.1:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767519"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3459,
          "referenceAllele": "A",
          "start": 3458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644097.1:c.3118A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494682.1:p.Ser1040Arg",
        "hgvsWellDefined": "ENSP00000494682.1:p.Ser1040Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1816,
          "referenceAllele": "A",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.1:c.1816A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.1:p.Ser606Arg",
        "hgvsWellDefined": "ENSP00000495428.1:p.Ser606Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3241,
          "referenceAllele": "A",
          "start": 3240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644255.1:c.*2888A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493608.1:n.*2888A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3496,
          "referenceAllele": "A",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644319.1:n.3496A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767758"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 780,
          "referenceAllele": "A",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644786.1:n.780A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2029,
          "referenceAllele": "A",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644882.1:n.2029A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3972,
          "referenceAllele": "A",
          "start": 3971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645901.1:n.3972A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3251,
          "referenceAllele": "A",
          "start": 3250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646391.1:c.*2891A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494104.1:n.*2891A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768848"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3326,
          "referenceAllele": "A",
          "start": 3325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646625.1:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496263.1:p.Ser1041Arg",
        "hgvsWellDefined": "ENSP00000496263.1:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2086,
          "referenceAllele": "A",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647262.1:n.2086A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3256,
          "referenceAllele": "A",
          "start": 3255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647279.1:c.*2360A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494502.1:n.*2360A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2185,
          "referenceAllele": "A",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647534.1:n.2185A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769469"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3343,
          "referenceAllele": "A",
          "start": 3342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.7:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Ser1041Arg",
        "hgvsWellDefined": "ENSP00000298552.3:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3204,
          "referenceAllele": "A",
          "start": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000440111.6:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394524.2:p.Ser1041Arg",
        "hgvsWellDefined": "ENSP00000394524.2:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3051,
          "referenceAllele": "A",
          "start": 3050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000545250.5:c.2968A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444017.1:p.Ser990Arg",
        "hgvsWellDefined": "ENSP00000444017.1:p.Ser990Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319262",
      "coordinates": [
        {
          "allele": "C",
          "end": 3355,
          "referenceAllele": "A",
          "start": 3354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.4:c.3121A>C",
        "LRG_486t1:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Ser1041Arg",
        "hgvsWellDefined": "NP_000359.1:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825954418",
      "coordinates": [
        {
          "allele": "C",
          "end": 3352,
          "referenceAllele": "A",
          "start": 3351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.1:c.3118A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Ser1040Arg",
        "hgvsWellDefined": "NP_001155898.1:p.Ser1040Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987520",
      "coordinates": [
        {
          "allele": "C",
          "end": 3202,
          "referenceAllele": "A",
          "start": 3201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.1:c.2968A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Ser990Arg",
        "hgvsWellDefined": "NP_001155899.1:p.Ser990Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3400,
          "referenceAllele": "A",
          "start": 3399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_005272211.1:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272268.1:p.Ser1041Arg",
        "hgvsWellDefined": "XP_005272268.1:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3335,
          "referenceAllele": "A",
          "start": 3334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717271.1:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717334.1:p.Ser1041Arg",
        "hgvsWellDefined": "XP_006717334.1:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3450,
          "referenceAllele": "A",
          "start": 3449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.1:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Ser1041Arg",
        "hgvsWellDefined": "XP_011517281.1:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828061188",
      "coordinates": [
        {
          "allele": "C",
          "end": 3251,
          "referenceAllele": "A",
          "start": 3250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.1:c.2758A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Ser920Arg",
        "hgvsWellDefined": "NP_001349106.1:p.Ser920Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3349,
          "referenceAllele": "A",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.2:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Ser1041Arg",
        "hgvsWellDefined": "XP_011517281.1:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3814,
          "referenceAllele": "A",
          "start": 3813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015096.1:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870585.1:p.Ser1041Arg",
        "hgvsWellDefined": "XP_016870585.1:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3785,
          "referenceAllele": "A",
          "start": 3784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015097.1:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870586.1:p.Ser1041Arg",
        "hgvsWellDefined": "XP_016870586.1:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567918"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3397,
          "referenceAllele": "A",
          "start": 3396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015098.1:c.3118A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870587.1:p.Ser1040Arg",
        "hgvsWellDefined": "XP_016870587.1:p.Ser1040Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3464,
          "referenceAllele": "A",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015100.1:c.2758A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870589.1:p.Ser920Arg",
        "hgvsWellDefined": "XP_016870589.1:p.Ser920Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3491,
          "referenceAllele": "A",
          "start": 3490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015101.1:c.2755A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870590.1:p.Ser919Arg",
        "hgvsWellDefined": "XP_016870590.1:p.Ser919Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319262",
      "coordinates": [
        {
          "allele": "C",
          "end": 3338,
          "referenceAllele": "A",
          "start": 3337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.5:c.3121A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Ser1041Arg",
        "hgvsWellDefined": "NP_000359.1:p.Ser1041Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.3121A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.3121A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Ser1041Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Ser1041Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825954418",
      "coordinates": [
        {
          "allele": "C",
          "end": 3335,
          "referenceAllele": "A",
          "start": 3334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.2:c.3118A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Ser1040Arg",
        "hgvsWellDefined": "NP_001155898.1:p.Ser1040Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987520",
      "coordinates": [
        {
          "allele": "C",
          "end": 3185,
          "referenceAllele": "A",
          "start": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.2:c.2968A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Ser990Arg",
        "hgvsWellDefined": "NP_001155899.1:p.Ser990Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828061188",
      "coordinates": [
        {
          "allele": "C",
          "end": 3234,
          "referenceAllele": "A",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.2:c.2758A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Ser920Arg",
        "hgvsWellDefined": "NP_001349106.1:p.Ser920Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690502"
    }
  ],
  "type": "nucleotide"
}