{
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  "@id": "http://reg.genome.network/allele/CA380332505",
  "communityStandardTitle": [
    "NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1483823[alleleid]",
        "alleleId": 1483823,
        "preferredName": "NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1405025",
        "RCV": [
          "RCV001899155"
        ],
        "variationId": 1405025
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47464361G>T?assembly=hg19",
        "id": "chr11:g.47464361G>T"
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      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47442809G>T?assembly=hg38",
        "id": "chr11:g.47442809G>T"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1015604630",
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        "@id": "http://gnomad.broadinstitute.org/variant/11-47442809-G-T?dataset=gnomad_r4",
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        "variant": "11:47442809 G / T"
      }
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    {
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          "allele": "T",
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      "referenceGenome": "GRCh38",
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    },
    {
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    },
    {
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      },
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        "maneStatus": "MANE Select",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262876"
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          "endIntronDirection": "-",
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          "startIntronDirection": "-",
          "startIntronOffset": 888
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      "referenceSequence": "http://reg.genome.network/refseq/RS354737"
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      "referenceSequence": "http://reg.genome.network/refseq/RS030184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573293013",
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      "referenceSequence": "http://reg.genome.network/refseq/RS039240"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060134"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060135"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS087421"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533890"
    },
    {
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      "proteinEffect": {
        "hgvs": "XP_005253100.1:p.Tyr179Ter",
        "hgvsWellDefined": "XP_005253100.1:p.Tyr179_Val371delinsGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluAlaLeuAspAlaIleGluArgAlaGlnAspLeuAlaGluGluValGlyAsnLysLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829576197",
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "C",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_005055.5:c.537C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005046.2:p.Tyr179Ter",
        "hgvsWellDefined": "NP_005046.2:p.Tyr179_Val412delinsGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluThrAlaPheProArgTyrAspSerAlaMetSerIleMetThrGluIleGlyAsnArgLeuGlyGlnValGlnAlaLeuLeuGlyValAlaLysCysTrpValAlaArgLysAlaLeuAspLysAlaLeuAspAlaIleGluArgAlaGlnAspLeuAlaGluGluValGlyAsnLysLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298854.7:c.537C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005055.5:c.537C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298854.2:p.Tyr179Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005046.2:p.Tyr179Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573293013",
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "C",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_032645.5:c.537C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116034.2:p.Tyr179Ter",
        "hgvsWellDefined": "NP_116034.2:p.Tyr179_Val353delinsGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699166"
    }
  ],
  "type": "nucleotide"
}