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      "hgvs": [
        "XR_924990.1:n.1263G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825585892",
      "coordinates": [
        {
          "allele": "C",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010825",
      "geneNCBI_id": 6452,
      "geneSymbol": "SH3BP2",
      "hgvs": [
        "NM_001122681.2:c.1259G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116153.1:p.Gly420Ala",
        "hgvsWellDefined": "NP_001116153.1:p.Gly420Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503393.8:c.1259G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001122681.2:c.1259G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422168.3:p.Gly420Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001116153.1:p.Gly420Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825921094",
      "coordinates": [
        {
          "allele": "C",
          "end": 1450,
          "referenceAllele": "G",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010825",
      "geneNCBI_id": 6452,
      "geneSymbol": "SH3BP2",
      "hgvs": [
        "NM_001145855.2:c.1343G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139327.1:p.Gly448Ala",
        "hgvsWellDefined": "NP_001139327.1:p.Gly448Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573183296",
      "coordinates": [
        {
          "allele": "C",
          "end": 1484,
          "referenceAllele": "G",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010825",
      "geneNCBI_id": 6452,
      "geneSymbol": "SH3BP2",
      "hgvs": [
        "NM_001145856.2:c.1430G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139328.1:p.Gly477Ala",
        "hgvsWellDefined": "NP_001139328.1:p.Gly477Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677953"
    }
  ],
  "type": "nucleotide"
}