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      "@id": "http://reg.genome.network/allele/PA2826974077",
      "coordinates": [
        {
          "allele": "A",
          "end": 838,
          "referenceAllele": "G",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001317946.2:c.634G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304875.1:p.Ala212Thr",
        "hgvsWellDefined": "NP_001304875.1:p.Ala212Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043575",
      "coordinates": [
        {
          "allele": "A",
          "end": 865,
          "referenceAllele": "G",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001362877.2:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349806.1:p.Ala221Thr",
        "hgvsWellDefined": "NP_001349806.1:p.Ala221Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645459081",
      "coordinates": [
        {
          "allele": "A",
          "end": 811,
          "referenceAllele": "G",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_003073.5:c.607G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003064.2:p.Ala203Thr",
        "hgvsWellDefined": "NP_003064.2:p.Ala203Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644036.2:c.607G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003073.5:c.607G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494049.2:p.Ala203Thr"
          },
          "RefSeq": {
            "hgvs": "NP_003064.2:p.Ala203Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}