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        "hgvs": "NP_000274.3:p.Thr850Ala",
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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_000283.4:c.2548A>G"
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:p.Thr850Ala"
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            "hgvs": "NP_000274.3:p.Thr850Ala"
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        }
      }
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      "coordinates": [
        {
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          "referenceAllele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.2:c.2545A>G"
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      "proteinEffect": {
        "hgvs": "NP_001138763.2:p.Thr849Ala",
        "hgvsWellDefined": "NP_001138763.2:p.Thr849Ala"
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      "referenceSequence": "http://reg.genome.network/refseq/RS712791"
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    {
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          "referenceAllele": "A",
          "start": 1979
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      ],
      "gene": "http://reg.genome.network/gene/GN008786",
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      "hgvs": [
        "NM_001145292.2:c.1711A>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001138764.2:p.Thr571Ala"
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      "referenceSequence": "http://reg.genome.network/refseq/RS712792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827495511",
      "coordinates": [
        {
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          "start": 1914
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      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
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      "hgvs": [
        "NM_001350154.3:c.1646A>G"
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        "hgvs": "NP_001337083.1:p.Asn549Ser",
        "hgvsWellDefined": "NP_001337083.1:p.Asn549Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS719479"
    },
    {
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      ],
      "gene": "http://reg.genome.network/gene/GN008786",
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        "hgvsWellDefined": "NP_001337084.1:p.Asn443Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS719480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828817070",
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          "allele": "G",
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          "referenceAllele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001379246.1:c.1711A>G"
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        "hgvsWellDefined": "NP_001366175.1:p.Thr571Ala"
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      "referenceSequence": "http://reg.genome.network/refseq/RS721937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828817510",
      "coordinates": [
        {
          "allele": "G",
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        "hgvsWellDefined": "NP_001366176.1:p.Thr571Ala"
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      "referenceSequence": "http://reg.genome.network/refseq/RS721938"
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  "type": "nucleotide"
}