{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041476",
  "communityStandardTitle": [
    "NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter)"
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  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357980[alleleid]",
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        "preferredName": "NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371001",
        "RCV": [
          "RCV000412017"
        ],
        "variationId": 371001
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6412027C>T?assembly=hg19",
        "id": "chr11:g.6412027C>T"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6390797C>T?assembly=hg38",
        "id": "chr11:g.6390797C>T"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516931",
        "rs": 1057516931
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    "gnomAD_4": [
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        "@id": "http://gnomad.broadinstitute.org/variant/11-6390797-C-T?dataset=gnomad_r4",
        "id": "11-6390797-C-T",
        "variant": "11:6390797 C / T"
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      "referenceGenome": "GRCh38",
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    {
      "chromosome": "11",
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
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      "referenceGenome": "NCBI36",
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS001964"
    }
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        {
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      ],
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "NM_000543.5:c.199C>T"
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          "start": 366
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS261512"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 323,
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          "start": 322
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "endIntronDirection": "+",
          "endIntronOffset": 158,
          "referenceAllele": "C",
          "start": 194,
          "startIntronDirection": "+",
          "startIntronOffset": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000530395.1:c.-96+158C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431479.1:n.-96+158C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 215
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      ],
      "gene": "http://reg.genome.network/gene/GN011120",
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      "geneSymbol": "SMPD1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000432625.1:p.Gln67_Pro171delinsGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluAsnTrpGlyValLeuCysSerPheProIleProArgSerProProHisLeuSerGlnTyrGluPheLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000435950.1:p.Gln67_Ile366delinsGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
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      ],
      "gene": "http://reg.genome.network/gene/GN011120",
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      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000533196.1:n.358C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS358006"
    },
    {
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN011120",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000434353.1:p.Gln67_Pro402delinsGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysAsnTrpGlyValLeuCysSerPheProIleProArgSerProProHisLeuSerGlnTyrGluPheLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645503877",
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
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      "proteinEffect": {
        "hgvs": "NP_000534.3:p.Gln67Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825288230",
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001007593.2:c.199C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007594.2:p.Gln67Ter",
        "hgvsWellDefined": "NP_001007594.2:p.Gln67_Cys630delinsGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer"
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        {
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          "end": 497,
          "referenceAllele": "C",
          "start": 496
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      "referenceSequence": "http://reg.genome.network/refseq/RS060144"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087471"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS127013"
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    {
      "@id": "http://reg.genome.network/allele/PA2826978537",
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        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS512720"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS512721"
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    {
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        {
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS524035"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS527197"
    },
    {
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    {
      "coordinates": [
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS603294"
    },
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
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      "proteinEffect": {
        "hgvs": "NP_000534.3:p.Gln67Ter",
        "hgvsWellDefined": "NP_000534.3:p.Gln67_Cys631delinsGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662482",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342245.9:c.199C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000543.5:c.199C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340409.4:p.Gln67Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000534.3:p.Gln67Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825288230",
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001007593.3:c.199C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007594.2:p.Gln67Ter",
        "hgvsWellDefined": "NP_001007594.2:p.Gln67_Cys630delinsGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826978537",
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318087.2:c.199C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305016.1:p.Gln67Ter",
        "hgvsWellDefined": "NP_001305016.1:p.Gln67_Lys508delinsGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318088.2:c.-763C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305017.1:n.-763C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916045086",
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001365135.2:c.199C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352064.1:p.Gln67Ter",
        "hgvsWellDefined": "NP_001352064.1:p.Gln67_Cys587delinsGlyHisProAlaArgLeuHisArgIleValProArgLeuArgAspValPheGlyTrpGlyAsnLeuThrCysProIleCysLysGlyLeuPheThrAlaIleAsnLeuGlyLeuLysLysGluProAsnValAlaArgValGlySerValAlaIleLysLeuCysAsnLeuLeuLysIleAlaProProAlaValCysGlnSerIleValHisLeuPheGluAspAspMetValGluValTrpArgArgSerValLeuSerProSerGluAlaCysGlyLeuLeuLeuGlySerThrCysGlyHisTrpAspIlePheSerSerTrpAsnIleSerLeuProThrValProLysProProProLysProProSerProProAlaProGlyAlaProValSerArgIleLeuPheLeuThrAspLeuHisTrpAspHisAspTyrLeuGluGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.3:n.324C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.2:n.324C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703473"
    }
  ],
  "type": "nucleotide"
}