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  "@id": "http://reg.genome.network/allele/CA380334282",
  "communityStandardTitle": [
    "NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=935592[alleleid]",
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        "preferredName": "NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/939708",
        "RCV": [
          "RCV001209146"
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        "variationId": 939708
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47469537G>A?assembly=hg19",
        "id": "chr11:g.47469537G>A"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr11:g.47447985G>A?assembly=hg38",
        "id": "chr11:g.47447985G>A"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/2076422949",
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS262876"
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      "proteinEffect": {
        "hgvs": "XP_011518555.1:p.Gln120Ter",
        "hgvsWellDefined": "XP_011518555.1:p.Gln120_Val420delinsLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluThrAlaPheProArgTyrAspSerAlaMetSerIleMetThrGluIleGlyAsnArgLeuGlyGlnValGlnAlaLeuLeuGlyValAlaLysCysTrpValAlaArgLysAlaLeuAspLysProTrpProMetLeuThrPheGlnAlaLeuAspAlaIleGluArgAlaGlnAspLeuAlaGluGluValGlyAsnLysLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 530,
          "referenceAllele": "C",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_005253042.3:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253099.1:p.Gln120Ter",
        "hgvsWellDefined": "XP_005253099.1:p.Gln120_Val394delinsLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluThrAlaPheProArgTyrAspSerAlaMetSerIleMetThrGluIleGlyAsnArgLeuGlyGlnValGlnAlaLeuLeuGlyValAlaLysCysTrpValAlaArgLysAlaLeuAspLysLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 530,
          "referenceAllele": "C",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_005253043.3:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253100.1:p.Gln120Ter",
        "hgvsWellDefined": "XP_005253100.1:p.Gln120_Val371delinsLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluAlaLeuAspAlaIleGluArgAlaGlnAspLeuAlaGluGluValGlyAsnLysLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829576062",
      "coordinates": [
        {
          "allele": "T",
          "end": 530,
          "referenceAllele": "C",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_005055.5:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005046.2:p.Gln120Ter",
        "hgvsWellDefined": "NP_005046.2:p.Gln120_Val412delinsLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluThrAlaPheProArgTyrAspSerAlaMetSerIleMetThrGluIleGlyAsnArgLeuGlyGlnValGlnAlaLeuLeuGlyValAlaLysCysTrpValAlaArgLysAlaLeuAspLysAlaLeuAspAlaIleGluArgAlaGlnAspLeuAlaGluGluValGlyAsnLysLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298854.7:c.358C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005055.5:c.358C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298854.2:p.Gln120Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005046.2:p.Gln120Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139751673",
      "coordinates": [
        {
          "allele": "T",
          "end": 530,
          "referenceAllele": "C",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_032645.5:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116034.2:p.Gln120Ter",
        "hgvsWellDefined": "NP_116034.2:p.Gln120_Val353delinsLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699166"
    }
  ],
  "type": "nucleotide"
}