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      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "XM_005262317.1:c.6457C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262374.1:p.Gln2153Ter",
        "hgvsWellDefined": "XP_005262374.1:p.Gln2153_Tyr2180delinsThrAlaAlaLeuValArgGlnLeuGlnGlnGlnLeuSerAsnThrGlnProGlnProSerThrAsnIlePheGlyArgTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6581,
          "referenceAllele": "C",
          "start": 6580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "XM_005262319.1:c.6382C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262376.1:p.Gln2128Ter",
        "hgvsWellDefined": "XP_005262376.1:p.Gln2128_Tyr2155delinsThrAlaAlaLeuValArgGlnLeuGlnGlnGlnLeuSerAsnThrGlnProGlnProSerThrAsnIlePheGlyArgTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499270133",
      "coordinates": [
        {
          "allele": "T",
          "end": 6607,
          "referenceAllele": "C",
          "start": 6606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "NM_005120.3:c.6448C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005111.2:p.Gln2150Ter",
        "hgvsWellDefined": "NP_005111.2:p.Gln2150_Tyr2177delinsThrAlaAlaLeuValArgGlnLeuGlnGlnGlnLeuSerAsnThrGlnProGlnProSerThrAsnIlePheGlyArgTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666828",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374080.8:c.6448C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005120.3:c.6448C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363193.3:p.Gln2150Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005111.2:p.Gln2150Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}