{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115186",
  "communityStandardTitle": [
    "NM_000102.4(CYP17A1):c.51G>A (p.Trp17Ter)"
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  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16828[alleleid]",
        "alleleId": 16828,
        "preferredName": "NM_000102.4(CYP17A1):c.51G>A (p.Trp17Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1789",
        "RCV": [
          "RCV000001862",
          "RCV003555892"
        ],
        "variationId": 1789
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.104597068C>T?assembly=hg19",
        "id": "chr10:g.104597068C>T"
      }
    ],
    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr10:g.102837311C>T?assembly=hg38",
        "id": "chr10:g.102837311C>T"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894141",
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    "gnomAD_4": [
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        "@id": "http://gnomad.broadinstitute.org/variant/10-102837311-C-T?dataset=gnomad_r4",
        "id": "10-102837311-C-T",
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    ]
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      "chromosome": "10",
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      ],
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      "referenceGenome": "GRCh38",
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    {
      "chromosome": "10",
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    },
    {
      "chromosome": "10",
      "coordinates": [
        {
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000723"
    }
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764407"
    },
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      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764441"
    },
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      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 223,
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          "start": 222
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267758"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS327369"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115187",
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        {
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      ],
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_000093.1:p.Trp17Ter",
        "hgvsWellDefined": "NP_000093.1:p.Trp17_Thr508delinsProLysArgArgCysProGlyAlaLysTyrProLysSerLeuLeuSerLeuProLeuValGlySerLeuProPheLeuProArgHisGlyHisMetHisAsnAsnPhePheLysLeuGlnLysLysTyrGlyProIleTyrSerValArgMetGlyThrLysThrThrValIleValGlyHisHisGlnLeuAlaLysGluValLeuIleLysLysGlyLysAspPheSerGlyArgProGlnMetAlaThrLeuAspIleAlaSerAsnAsnArgLysGlyIleAlaPheAlaAspSerGlyAlaHisTrpGlnLeuHisArgArgLeuAlaMetAlaThrPheAlaLeuPheLysAspGlyAspGlnLysLeuGluLysIleIleCysGlnGluIleSerThrLeuCysAspMetLeuAlaThrHisAsnGlyGlnSerIleAspIleSerPheProValPheValAlaValThrAsnValIleSerLeuIleCysPheAsnThrSerTyrLysAsnGlyAspProGluLeuAsnValIleGlnAsnTyrAsnGluGlyIleIleAspAsnLeuSerLysAspSerLeuValAspLeuValProTrpLeuLysIlePheProAsnLysThrLeuGluLysLeuLysSerHisValLysIleArgAsnAspLeuLeuAsnLysIleLeuGluAsnTyrLysGluLysPheArgSerAspSerIleThrAsnMetLeuAspThrLeuMetGlnAlaLysMetAsnSerAspAsnGlyAsnAlaGlyProAspGlnAspSerGluLeuLeuSerAspAsnHisIleLeuThrThrIleGlyAspIlePheGlyAlaGlyValGluThrThrThrSerValValLysTrpThrLeuAlaPheLeuLeuHisAsnProGlnValLysLysLysLeuTyrGluGluIleAspGlnAsnValGlyPheSerArgThrProThrIleSerAspArgAsnArgLeuLeuLeuLeuGluAlaThrIleArgGluValLeuArgLeuArgProValAlaProMetLeuIleProHisLysAlaAsnValAspSerSerIleGlyGluPheAlaValAspLysGlyThrGluValIleIleAsnLeuTrpAlaLeuHisHisAsnGluLysGluTrpHisGlnProAspGlnPheMetProGluArgPheLeuAsnProAlaGlyThrGlnLeuIleSerProSerValSerTyrLeuProPheGlyAlaGlyProArgSerCysIleGlyGluIleLeuAlaArgGlnGluLeuPheLeuIleMetAlaTrpLeuLeuGlnArgPheAspLeuGluValProAspAspGlyGlnLeuProSerLeuGluGlyIleProLysValValPheLeuIleAspSerPheLysValLysIleLysValArgGlnAlaTrpArgGluAlaGlnAlaGluGlySerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662317",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369887.4:c.51G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000102.4:c.51G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358903.3:p.Trp17Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000093.1:p.Trp17Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}