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      "referenceSequence": "http://reg.genome.network/refseq/RS699844",
      "MANE": {
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        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_139125.4:c.722C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296280.7:p.Pro241Leu"
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          "RefSeq": {
            "hgvs": "NP_624302.1:p.Pro241Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "NR_033519.2:n.595C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS702138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825358937",
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        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "NM_001031849.3:c.722C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027019.1:p.Pro241Leu",
        "hgvsWellDefined": "NP_001027019.1:p.Pro241Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711495"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829354668",
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "NM_001879.6:c.722C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001870.3:p.Pro241Leu",
        "hgvsWellDefined": "NP_001870.3:p.Pro241Leu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS727218",
      "MANE": {
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        "maneStatus": "MANE Plus Clinical",
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          "RefSeq": {
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336792.5:p.Pro241Leu"
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          "RefSeq": {
            "hgvs": "NP_001870.3:p.Pro241Leu"
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        }
      }
    }
  ],
  "type": "nucleotide"
}