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        "hgvs": "NP_000059.3:p.Glu2257Gly",
        "hgvsWellDefined": "NP_000059.3:p.Glu2257Gly"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674685"
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      "@id": "http://reg.genome.network/allele/PA2825599003",
      "coordinates": [
        {
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          "referenceAllele": "A",
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      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.2:c.6752A>G"
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      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.Glu2251Gly",
        "hgvsWellDefined": "NP_001120694.1:p.Glu2251Gly"
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      "referenceSequence": "http://reg.genome.network/refseq/RS676856",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "NM_001127222.2:c.6752A>G"
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        "protein": {
          "Ensembl": {
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            "hgvs": "NP_001120694.1:p.Glu2251Gly"
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    {
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      "gene": "http://reg.genome.network/gene/GN001388",
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      "geneSymbol": "CACNA1A",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.Glu2254Gly",
        "hgvsWellDefined": "NP_001167551.1:p.Glu2254Gly"
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      "referenceSequence": "http://reg.genome.network/refseq/RS678846"
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    {
      "@id": "http://reg.genome.network/allele/PA2580446856",
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      "gene": "http://reg.genome.network/gene/GN001388",
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      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.3:c.6770A>G"
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        "hgvs": "NP_075461.2:p.Glu2257Gly",
        "hgvsWellDefined": "NP_075461.2:p.Glu2257Gly"
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      "referenceSequence": "http://reg.genome.network/refseq/RS698619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825594533",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Glu2252Gly",
        "hgvsWellDefined": "NP_001120693.1:p.Glu2252Gly"
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      "referenceSequence": "http://reg.genome.network/refseq/RS712197"
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  ],
  "type": "nucleotide"
}