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  "communityStandardTitle": [
    "NM_002778.4(PSAP):c.670G>T (p.Glu224Ter)"
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        "RCV": [
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      "proteinEffect": {
        "hgvs": "NP_002769.1:p.Glu224Ter",
        "hgvsWellDefined": "NP_002769.1:p.Glu224_Asn524delinsHisValLysGluGluCysAspArgLeuGlyProGlyMetAlaAspIleCysLysAsnTyrIleSerGlnTyrSerGluIleAlaIleGlnMetMetMetHisMetGlnProLysGluIleCysAlaLeuValGlyPheCysAspGluValLysGluMetProMetGlnThrLeuValProAlaLysValAlaSerLysAsnValIleProAlaLeuGluLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394936.8:c.670G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002778.4:c.670G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378394.3:p.Glu224Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002769.1:p.Glu224Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825403246",
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.3:c.670G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:p.Glu224Ter",
        "hgvsWellDefined": "NP_001035930.1:p.Glu224_Asn527delinsHisValLysGluGluCysAspArgLeuGlyProGlyMetAlaAspIleCysLysAsnTyrIleSerGlnTyrSerGluIleAlaIleGlnMetMetMetHisMetGlnAspGlnGlnProLysGluIleCysAlaLeuValGlyPheCysAspGluValLysGluMetProMetGlnThrLeuValProAlaLysValAlaSerLysAsnValIleProAlaLeuGluLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825403607",
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.3:c.670G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:p.Glu224Ter",
        "hgvsWellDefined": "NP_001035931.1:p.Glu224_Asn526delinsHisValLysGluGluCysAspArgLeuGlyProGlyMetAlaAspIleCysLysAsnTyrIleSerGlnTyrSerGluIleAlaIleGlnMetMetMetHisMetAspGlnGlnProLysGluIleCysAlaLeuValGlyPheCysAspGluValLysGluMetProMetGlnThrLeuValProAlaLysValAlaSerLysAsnValIleProAlaLeuGluLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676025"
    }
  ],
  "type": "nucleotide"
}