{
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  "@id": "http://reg.genome.network/allele/CA2580081931",
  "communityStandardTitle": [
    "NM_002778.4(PSAP):c.722_723delinsAA (p.Cys241Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2153310[alleleid]",
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      }
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2095404",
        "RCV": [
          "RCV003013783"
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        "variationId": 2095404
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/2494516881",
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      "referenceSequence": "http://reg.genome.network/refseq/RS276430"
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      "referenceSequence": "http://reg.genome.network/refseq/RS009702"
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    },
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      "proteinEffect": {
        "hgvs": "NP_002769.1:p.Cys241Ter",
        "hgvsWellDefined": "NP_002769.1:p.Cys241_Asn524delinsLysAsnTyrIleSerGlnTyrSerGluIleAlaIleGlnMetMetMetHisMetGlnProLysGluIleCysAlaLeuValGlyPheCysAspGluValLysGluMetProMetGlnThrLeuValProAlaLysValAlaSerLysAsnValIleProAlaLeuGluLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394936.8:c.722_723delinsAA"
          },
          "RefSeq": {
            "hgvs": "NM_002778.4:c.722_723delinsAA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378394.3:p.Cys241Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002769.1:p.Cys241Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825403266",
      "coordinates": [
        {
          "allele": "AA",
          "end": 753,
          "referenceAllele": "GC",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.3:c.722_723delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:p.Cys241Ter",
        "hgvsWellDefined": "NP_001035930.1:p.Cys241_Asn527delinsLysAsnTyrIleSerGlnTyrSerGluIleAlaIleGlnMetMetMetHisMetGlnAspGlnGlnProLysGluIleCysAlaLeuValGlyPheCysAspGluValLysGluMetProMetGlnThrLeuValProAlaLysValAlaSerLysAsnValIleProAlaLeuGluLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825403629",
      "coordinates": [
        {
          "allele": "AA",
          "end": 753,
          "referenceAllele": "GC",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.3:c.722_723delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:p.Cys241Ter",
        "hgvsWellDefined": "NP_001035931.1:p.Cys241_Asn526delinsLysAsnTyrIleSerGlnTyrSerGluIleAlaIleGlnMetMetMetHisMetAspGlnGlnProLysGluIleCysAlaLeuValGlyPheCysAspGluValLysGluMetProMetGlnThrLeuValProAlaLysValAlaSerLysAsnValIleProAlaLeuGluLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676025"
    }
  ],
  "type": "nucleotide"
}