{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341394018",
  "communityStandardTitle": [
    "NM_000198.4(HSD3B2):c.9G>A (p.Trp3Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=921603[alleleid]",
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        "preferredName": "NM_000198.4(HSD3B2):c.9G>A (p.Trp3Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/946461",
        "RCV": [
          "RCV001217332",
          "RCV001580573"
        ],
        "variationId": 946461
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.119958051G>A?assembly=hg19",
        "id": "chr1:g.119958051G>A"
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.119415428G>A?assembly=hg38",
        "id": "chr1:g.119415428G>A"
      }
    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/765335418",
        "rs": 765335418
      }
    ]
  },
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "1",
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "1",
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      "referenceGenome": "NCBI36",
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS002801"
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  ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS750403",
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267508"
    },
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000388292.1:p.Trp3Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS292688"
    },
    {
      "coordinates": [
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      ],
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      "geneNCBI_id": 3284,
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      "hgvs": [
        "ENST00000443865.2:n.138G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS297544"
    },
    {
      "coordinates": [
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      ],
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        "ENST00000471656.5:n.150G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS313799"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364237"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825079868",
      "coordinates": [
        {
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          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000189.1:p.Trp3_Gln372delinsSerCysLeuValThrGlyAlaGlyGlyLeuLeuGlyGlnArgIleValArgLeuLeuValGluGluLysGluLeuLysGluIleArgAlaLeuAspLysAlaPheArgProGluLeuArgGluGluPheSerLysLeuGlnAsnArgThrLysLeuThrValLeuGluGlyAspIleLeuAspGluProPheLeuLysArgAlaCysGlnAspValSerValValIleHisThrAlaCysIleIleAspValPheGlyValThrHisArgGluSerIleMetAsnValAsnValLysGlyThrGlnLeuLeuLeuGluAlaCysValGlnAlaSerValProValPheIleTyrThrSerSerIleGluValAlaGlyProAsnSerTyrLysGluIleIleGlnAsnGlyHisGluGluGluProLeuGluAsnThrTrpProThrProTyrProTyrSerLysLysLeuAlaGluLysAlaValLeuAlaAlaAsnGlyTrpAsnLeuLysAsnGlyAspThrLeuTyrThrCysAlaLeuArgProThrTyrIleTyrGlyGluGlyGlyProPheLeuSerAlaSerIleAsnGluAlaLeuAsnAsnAsnGlyIleLeuSerSerValGlyLysPheSerThrValAsnProValTyrValGlyAsnValAlaTrpAlaHisIleLeuAlaLeuArgAlaLeuArgAspProLysLysAlaProSerValArgGlyGlnPheTyrTyrIleSerAspAspThrProHisGlnSerTyrAspAsnLeuAsnTyrIleLeuSerLysGluPheGlyLeuArgLeuAspSerArgTrpSerLeuProLeuThrLeuMetTyrTrpIleGlyPheLeuLeuGluValValSerPheLeuLeuSerProIleTyrSerTyrGlnProProPheAsnArgHisThrValThrLeuSerAsnSerValPheThrPheSerTyrLysLysAlaGlnArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139693717",
      "coordinates": [
        {
          "allele": "A",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
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      "geneSymbol": "HSD3B2",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001159592.1:p.Trp3_Gln372delinsSerCysLeuValThrGlyAlaGlyGlyLeuLeuGlyGlnArgIleValArgLeuLeuValGluGluLysGluLeuLysGluIleArgAlaLeuAspLysAlaPheArgProGluLeuArgGluGluPheSerLysLeuGlnAsnArgThrLysLeuThrValLeuGluGlyAspIleLeuAspGluProPheLeuLysArgAlaCysGlnAspValSerValValIleHisThrAlaCysIleIleAspValPheGlyValThrHisArgGluSerIleMetAsnValAsnValLysGlyThrGlnLeuLeuLeuGluAlaCysValGlnAlaSerValProValPheIleTyrThrSerSerIleGluValAlaGlyProAsnSerTyrLysGluIleIleGlnAsnGlyHisGluGluGluProLeuGluAsnThrTrpProThrProTyrProTyrSerLysLysLeuAlaGluLysAlaValLeuAlaAlaAsnGlyTrpAsnLeuLysAsnGlyAspThrLeuTyrThrCysAlaLeuArgProThrTyrIleTyrGlyGluGlyGlyProPheLeuSerAlaSerIleAsnGluAlaLeuAsnAsnAsnGlyIleLeuSerSerValGlyLysPheSerThrValAsnProValTyrValGlyAsnValAlaTrpAlaHisIleLeuAlaLeuArgAlaLeuArgAspProLysLysAlaProSerValArgGlyGlnPheTyrTyrIleSerAspAspThrProHisGlnSerTyrAspAsnLeuAsnTyrIleLeuSerLysGluPheGlyLeuArgLeuAspSerArgTrpSerLeuProLeuThrLeuMetTyrTrpIleGlyPheLeuLeuGluValValSerPheLeuLeuSerProIleTyrSerTyrGlnProProPheAsnArgHisThrValThrLeuSerAsnSerValPheThrPheSerTyrLysLysAlaGlnArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825079868",
      "coordinates": [
        {
          "allele": "A",
          "end": 151,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NM_000198.4:c.9G>A"
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      "proteinEffect": {
        "hgvs": "NP_000189.1:p.Trp3Ter",
        "hgvsWellDefined": "NP_000189.1:p.Trp3_Gln372delinsSerCysLeuValThrGlyAlaGlyGlyLeuLeuGlyGlnArgIleValArgLeuLeuValGluGluLysGluLeuLysGluIleArgAlaLeuAspLysAlaPheArgProGluLeuArgGluGluPheSerLysLeuGlnAsnArgThrLysLeuThrValLeuGluGlyAspIleLeuAspGluProPheLeuLysArgAlaCysGlnAspValSerValValIleHisThrAlaCysIleIleAspValPheGlyValThrHisArgGluSerIleMetAsnValAsnValLysGlyThrGlnLeuLeuLeuGluAlaCysValGlnAlaSerValProValPheIleTyrThrSerSerIleGluValAlaGlyProAsnSerTyrLysGluIleIleGlnAsnGlyHisGluGluGluProLeuGluAsnThrTrpProThrProTyrProTyrSerLysLysLeuAlaGluLysAlaValLeuAlaAlaAsnGlyTrpAsnLeuLysAsnGlyAspThrLeuTyrThrCysAlaLeuArgProThrTyrIleTyrGlyGluGlyGlyProPheLeuSerAlaSerIleAsnGluAlaLeuAsnAsnAsnGlyIleLeuSerSerValGlyLysPheSerThrValAsnProValTyrValGlyAsnValAlaTrpAlaHisIleLeuAlaLeuArgAlaLeuArgAspProLysLysAlaProSerValArgGlyGlnPheTyrTyrIleSerAspAspThrProHisGlnSerTyrAspAsnLeuAsnTyrIleLeuSerLysGluPheGlyLeuArgLeuAspSerArgTrpSerLeuProLeuThrLeuMetTyrTrpIleGlyPheLeuLeuGluValValSerPheLeuLeuSerProIleTyrSerTyrGlnProProPheAsnArgHisThrValThrLeuSerAsnSerValPheThrPheSerTyrLysLysAlaGlnArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662352",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369416.4:c.9G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000198.4:c.9G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358424.3:p.Trp3Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000189.1:p.Trp3Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139693717",
      "coordinates": [
        {
          "allele": "A",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001159592.1:p.Trp3Ter",
        "hgvsWellDefined": "NP_001159592.1:p.Trp3_Gln372delinsSerCysLeuValThrGlyAlaGlyGlyLeuLeuGlyGlnArgIleValArgLeuLeuValGluGluLysGluLeuLysGluIleArgAlaLeuAspLysAlaPheArgProGluLeuArgGluGluPheSerLysLeuGlnAsnArgThrLysLeuThrValLeuGluGlyAspIleLeuAspGluProPheLeuLysArgAlaCysGlnAspValSerValValIleHisThrAlaCysIleIleAspValPheGlyValThrHisArgGluSerIleMetAsnValAsnValLysGlyThrGlnLeuLeuLeuGluAlaCysValGlnAlaSerValProValPheIleTyrThrSerSerIleGluValAlaGlyProAsnSerTyrLysGluIleIleGlnAsnGlyHisGluGluGluProLeuGluAsnThrTrpProThrProTyrProTyrSerLysLysLeuAlaGluLysAlaValLeuAlaAlaAsnGlyTrpAsnLeuLysAsnGlyAspThrLeuTyrThrCysAlaLeuArgProThrTyrIleTyrGlyGluGlyGlyProPheLeuSerAlaSerIleAsnGluAlaLeuAsnAsnAsnGlyIleLeuSerSerValGlyLysPheSerThrValAsnProValTyrValGlyAsnValAlaTrpAlaHisIleLeuAlaLeuArgAlaLeuArgAspProLysLysAlaProSerValArgGlyGlnPheTyrTyrIleSerAspAspThrProHisGlnSerTyrAspAsnLeuAsnTyrIleLeuSerLysGluPheGlyLeuArgLeuAspSerArgTrpSerLeuProLeuThrLeuMetTyrTrpIleGlyPheLeuLeuGluValValSerPheLeuLeuSerProIleTyrSerTyrGlnProProPheAsnArgHisThrValThrLeuSerAsnSerValPheThrPheSerTyrLysLysAlaGlnArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713169"
    }
  ],
  "type": "nucleotide"
}