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        "hgvs": "NP_001186902.2:n.300+2623C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 6258,
          "referenceAllele": "C",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 6257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.177+6258C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.177+6258C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255519",
      "coordinates": [
        {
          "allele": "A",
          "end": 1041,
          "referenceAllele": "G",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.3:c.1019G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Trp340Ter",
        "hgvsWellDefined": "NP_000160.1:p.Trp340_Leu429delinsGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.1019G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.1019G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Trp340Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Trp340Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.1098G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}