{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11774359",
  "communityStandardTitle": [
    "NM_013261.5(PPARGC1A):c.235-21517T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.23854891A>G?assembly=hg19",
        "id": "chr4:g.23854891A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.23853268A>G?assembly=hg38",
        "id": "chr4:g.23853268A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10018239",
        "rs": 10018239
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-23854891-A-G?dataset=gnomad_r2_1",
        "id": "4-23854891-A-G",
        "variant": "4:23854891 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-23853268-A-G?dataset=gnomad_r3",
        "id": "4-23853268-A-G",
        "variant": "4:23853268 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-23853268-A-G?dataset=gnomad_r4",
        "id": "4-23853268-A-G",
        "variant": "4:23853268 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 23853268,
          "referenceAllele": "A",
          "start": 23853267
        }
      ],
      "hgvs": [
        "NC_000004.12:g.23853268A>G",
        "CM000666.2:g.23853268A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 23854891,
          "referenceAllele": "A",
          "start": 23854890
        }
      ],
      "hgvs": [
        "NC_000004.11:g.23854891A>G",
        "CM000666.1:g.23854891A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 23463989,
          "referenceAllele": "A",
          "start": 23463988
        }
      ],
      "hgvs": [
        "NC_000004.10:g.23463989A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 41810,
          "referenceAllele": "T",
          "start": 41809
        }
      ],
      "hgvs": [
        "NG_028250.1:g.41810T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 624708,
          "referenceAllele": "T",
          "start": 624707
        }
      ],
      "hgvs": [
        "NG_028250.2:g.624708T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616289"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 324,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "ENST00000264867.7:c.235-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264867.2:n.235-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264867.7:c.235-21517T>C"
          },
          "RefSeq": {
            "hgvs": "NM_013261.5:c.235-21517T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264867.2:n.235-21517T>C"
          },
          "RefSeq": {
            "hgvs": "NP_037393.1:n.235-21517T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 354,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 354,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "ENST00000264867.6:c.235-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264867.2:n.235-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 309,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 309,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "ENST00000506055.5:c.235-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423075.1:n.235-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 314,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "ENST00000507342.5:n.315-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338654"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 154,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 154,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "ENST00000508380.1:n.155-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "ENST00000509642.5:n.328-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340363"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "ENST00000509702.5:n.192-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "ENST00000512169.1:n.328-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 312,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 312,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "ENST00000513205.5:c.235-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421632.1:n.235-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 354,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 354,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "ENST00000612355.1:c.223-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479729.1:n.223-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 564,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 564,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "ENST00000613098.4:c.-147-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481498.1:n.-147-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401600"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 354,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 354,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "ENST00000617484.4:c.223-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477921.1:n.223-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 354,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 354,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_013261.3:c.235-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_037393.1:n.235-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032666"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 745,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 745,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_005248130.2:c.250-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248187.1:n.250-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 503,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 503,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_005248131.3:c.247-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248188.1:n.247-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 276,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_005248132.1:c.226-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248189.1:n.226-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 277,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 277,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_005248134.3:c.250-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248191.1:n.250-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 249,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 249,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_011513764.1:c.235-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512066.1:n.235-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 642,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 642,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_011513765.1:c.199-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512067.1:n.199-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 428,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 428,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_011513766.1:c.130-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512068.1:n.130-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 407,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_011513767.1:c.130-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512069.1:n.130-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_011513768.1:c.130-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512070.1:n.130-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 277,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 277,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_011513769.1:c.250-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512071.1:n.250-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 559,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 559,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_011513770.1:c.-147-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512072.1:n.-147-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_011513771.1:c.-147-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512073.1:n.-147-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 868,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_001330751.1:c.250-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317680.1:n.250-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 700,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_001330752.1:c.199-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317681.1:n.199-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 564,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 564,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_001330753.1:c.-147-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317682.1:n.-147-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517077"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 803,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_001354825.1:c.250-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341754.1:n.250-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 804,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 804,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_001354826.1:c.-147-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341755.1:n.-147-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 803,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_001354827.1:c.250-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341756.1:n.250-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 354,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 354,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_013261.4:c.235-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_037393.1:n.235-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 700,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148981.1:n.701-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 803,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148982.1:n.804-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531427"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 956,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148983.1:n.957-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 354,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 354,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148984.1:n.355-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531429"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 868,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148985.1:n.869-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531430"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 700,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148986.1:n.701-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531431"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 700,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148987.1:n.701-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1094,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 1094,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_005248131.5:c.247-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248188.1:n.247-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 343,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_005248134.4:c.250-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248191.1:n.250-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 343,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_011513769.2:c.250-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512071.1:n.250-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 857,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 857,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "XM_024453878.1:c.250-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309646.1:n.250-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 324,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_013261.5:c.235-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_037393.1:n.235-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668087",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264867.7:c.235-21517T>C"
          },
          "RefSeq": {
            "hgvs": "NM_013261.5:c.235-21517T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264867.2:n.235-21517T>C"
          },
          "RefSeq": {
            "hgvs": "NP_037393.1:n.235-21517T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 944,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 944,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_001330751.2:c.250-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317680.1:n.250-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687101"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 776,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 776,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_001330752.2:c.199-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317681.1:n.199-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 879,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 879,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_001354825.2:c.250-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341754.1:n.250-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690326"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 880,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 880,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_001354826.2:c.-147-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341755.1:n.-147-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 879,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 879,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_001354827.2:c.250-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341756.1:n.250-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690328"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 776,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 776,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148981.2:n.777-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 879,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 879,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148982.2:n.880-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1032,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 1032,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148983.2:n.1033-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704902"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 324,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148984.2:n.325-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704903"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 944,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 944,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148985.2:n.945-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704904"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 776,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 776,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148986.2:n.777-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 776,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 776,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NR_148987.2:n.777-21517T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "endIntronDirection": "-",
          "endIntronOffset": 21516,
          "referenceAllele": "T",
          "start": 373,
          "startIntronDirection": "-",
          "startIntronOffset": 21517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009237",
      "geneNCBI_id": 10891,
      "geneSymbol": "PPARGC1A",
      "hgvs": [
        "NM_001330753.2:c.-147-21517T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317682.1:n.-147-21517T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718761"
    }
  ],
  "type": "nucleotide"
}