{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339963868",
  "communityStandardTitle": [
    "NM_022356.4(P3H1):c.232C>T (p.Gln78Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=623234[alleleid]",
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        "preferredName": "NM_022356.4(P3H1):c.232C>T (p.Gln78Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/635408",
        "RCV": [
          "RCV000786860",
          "RCV004526769"
        ],
        "variationId": 635408
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43232411G>A?assembly=hg19",
        "id": "chr1:g.43232411G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.42766740G>A?assembly=hg38",
        "id": "chr1:g.42766740G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1330779100",
        "rs": 1330779100
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    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43232411-G-A?dataset=gnomad_r2_1",
        "id": "1-43232411-G-A",
        "variant": "1:43232411 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-42766740-G-A?dataset=gnomad_r4",
        "id": "1-42766740-G-A",
        "variant": "1:42766740 G / A"
      }
    ]
  },
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    {
      "chromosome": "1",
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        {
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
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          "start": 43232410
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    {
      "chromosome": "1",
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000868"
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  "transcriptAlleles": [
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      "proteinEffect": {
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248959"
    },
    {
      "coordinates": [
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS254287"
    },
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        {
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS269156"
    },
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS277579"
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        {
          "allele": "T",
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS330220"
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      "referenceSequence": "http://reg.genome.network/refseq/RS332482"
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    {
      "@id": "http://reg.genome.network/allele/PA2825929037",
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      "proteinEffect": {
        "hgvs": "NP_001139761.1:p.Gln78Ter",
        "hgvsWellDefined": "NP_001139761.1:p.Gln78_Arg697delinsCysAlaAlaAspPheProTrpGluLeuAspProAspTrpSerProSerProAlaGlnAlaSerGlyAlaAlaAlaLeuArgAspLeuSerPhePheGlyGlyLeuLeuArgArgAlaAlaCysLeuArgArgCysLeuGlyProProAlaAlaHisSerLeuSerGluGluMetGluLeuGluPheArgLysArgSerProTyrAsnTyrLeuGlnValAlaTyrPheLysIleAsnLysLeuGluLysAlaValAlaAlaAlaHisThrPhePheValGlyAsnProGluHisMetGluMetGlnGlnAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013945"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826323448",
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "C",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001243246.1:c.232C>T",
        "LRG_5t3:c.232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230175.1:p.Gln78Ter",
        "hgvsWellDefined": "NP_001230175.1:p.Gln78_Ser804delinsCysAlaAlaAspPheProTrpGluLeuAspProAspTrpSerProSerProAlaGlnAlaSerGlyAlaAlaAlaLeuArgAspLeuSerPhePheGlyGlyLeuLeuArgArgAlaAlaCysLeuArgArgCysLeuGlyProProAlaAlaHisSerLeuSerGluGluMetGluLeuGluPheArgLysArgSerProTyrAsnTyrLeuGlnValAlaTyrPheLysIleAsnLysLeuGluLysAlaValAlaAlaAlaHisThrPhePheValGlyAsnProGluHisMetGluMetGlnGlnAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913197278",
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "C",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_022356.3:c.232C>T",
        "LRG_5t1:c.232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071751.3:p.Gln78Ter",
        "hgvsWellDefined": "NP_071751.3:p.Gln78_Leu736delinsCysAlaAlaAspPheProTrpGluLeuAspProAspTrpSerProSerProAlaGlnAlaSerGlyAlaAlaAlaLeuArgAspLeuSerPhePheGlyGlyLeuLeuArgArgAlaAlaCysLeuArgArgCysLeuGlyProProAlaAlaHisSerLeuSerGluGluMetGluLeuGluPheArgLysArgSerProTyrAsnTyrLeuGlnValAlaTyrPheLysIleAsnLysLeuGluLysAlaValAlaAlaAlaHisThrPhePheValGlyAsnProGluHisMetGluMetGlnGlnAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XR_946739.1:n.289C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 286,
          "referenceAllele": "C",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_017002051.2:c.-799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857540.1:n.-799C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_017002052.2:c.-799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857541.1:n.-799C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XR_946739.2:n.289C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913197278",
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_022356.4:c.232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071751.3:p.Gln78Ter",
        "hgvsWellDefined": "NP_071751.3:p.Gln78_Leu736delinsCysAlaAlaAspPheProTrpGluLeuAspProAspTrpSerProSerProAlaGlnAlaSerGlyAlaAlaAlaLeuArgAspLeuSerPhePheGlyGlyLeuLeuArgArgAlaAlaCysLeuArgArgCysLeuGlyProProAlaAlaHisSerLeuSerGluGluMetGluLeuGluPheArgLysArgSerProTyrAsnTyrLeuGlnValAlaTyrPheLysIleAsnLysLeuGluLysAlaValAlaAlaAlaHisThrPhePheValGlyAsnProGluHisMetGluMetGlnGlnAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698530",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296388.10:c.232C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022356.4:c.232C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296388.5:p.Gln78Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071751.3:p.Gln78Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825929037",
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001146289.2:c.232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139761.1:p.Gln78Ter",
        "hgvsWellDefined": "NP_001139761.1:p.Gln78_Arg697delinsCysAlaAlaAspPheProTrpGluLeuAspProAspTrpSerProSerProAlaGlnAlaSerGlyAlaAlaAlaLeuArgAspLeuSerPhePheGlyGlyLeuLeuArgArgAlaAlaCysLeuArgArgCysLeuGlyProProAlaAlaHisSerLeuSerGluGluMetGluLeuGluPheArgLysArgSerProTyrAsnTyrLeuGlnValAlaTyrPheLysIleAsnLysLeuGluLysAlaValAlaAlaAlaHisThrPhePheValGlyAsnProGluHisMetGluMetGlnGlnAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826323448",
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001243246.2:c.232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230175.1:p.Gln78Ter",
        "hgvsWellDefined": "NP_001230175.1:p.Gln78_Ser804delinsCysAlaAlaAspPheProTrpGluLeuAspProAspTrpSerProSerProAlaGlnAlaSerGlyAlaAlaAlaLeuArgAspLeuSerPhePheGlyGlyLeuLeuArgArgAlaAlaCysLeuArgArgCysLeuGlyProProAlaAlaHisSerLeuSerGluGluMetGluLeuGluPheArgLysArgSerProTyrAsnTyrLeuGlnValAlaTyrPheLysIleAsnLysLeuGluLysAlaValAlaAlaAlaHisThrPhePheValGlyAsnProGluHisMetGluMetGlnGlnAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714457"
    }
  ],
  "type": "nucleotide"
}