{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16608388",
  "communityStandardTitle": [
    "NM_000444.6(PHEX):c.58C>T (p.Arg20Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=462259",
        "active": true,
        "id": "COSM462259"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=378102[alleleid]",
        "alleleId": 378102,
        "preferredName": "NM_000444.6(PHEX):c.58C>T (p.Arg20Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379502",
        "RCV": [
          "RCV000438600",
          "RCV000505445"
        ],
        "variationId": 379502
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.22051181C>T?assembly=hg19",
        "id": "chrX:g.22051181C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.22033063C>T?assembly=hg38",
        "id": "chrX:g.22033063C>T"
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770573978",
        "rs": 770573978
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
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      "chromosome": "X",
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          "referenceAllele": "C",
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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        "NG_007563.2:g.5261C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000650"
    }
  ],
  "transcriptAlleles": [
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        {
          "allele": "T",
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          "start": 483
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      ],
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      "geneSymbol": "PHEX",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS825266"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS828196"
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      "referenceSequence": "http://reg.genome.network/refseq/RS829101"
    },
    {
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        {
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      "hgvs": [
        "ENST00000379374.5:c.58C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752217",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379374.5:c.58C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000444.6:c.58C>T"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000368682.4:p.Arg20Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000435.3:p.Arg20Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000379374.4:c.58C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000368682.4:p.Arg20_Trp749delinsIleAlaLeuValValPheValGlyGlyThrLeuValLeuGlyThrIleLeuPheLeuValSerGlnGlyLeuLeuSerLeuGlnAlaLysGlnGluTyrCysLeuLysProGluCysIleGluAlaAlaAlaAlaIleLeuSerLysValAsnLeuSerValAspProCysAspAsnPhePheArgPheAlaCysAspGlyTrpIleSerAsnAsnProIleProGluAspMetProSerTyrGlyValTyrProTrpLeuArgHisAsnValAspLeuLysLeuLysGluLeuLeuGluLysSerIleSerArgArgArgAspThrGluAlaIleGlnLysAlaLysIleLeuTyrSerSerCysMetAsnGluLysAlaIleGluLysAlaAspAlaLysProLeuLeuHisIleLeuArgHisSerProPheArgTrpProValLeuGluSerAsnIleGlyProGluGlyValTrpSerGluArgLysPheSerLeuLeuGlnThrLeuAlaThrPheArgGlyGlnTyrSerAsnSerValPheIleArgLeuTyrValSerProAspAspLysAlaSerAsnGluHisIleLeuLysLeuAspGlnAlaThrLeuSerLeuAlaValArgGluAspTyrLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645376570",
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "referenceAllele": "C",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_000444.5:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000435.3:p.Arg20Ter",
        "hgvsWellDefined": "NP_000435.3:p.Arg20_Trp749delinsIleAlaLeuValValPheValGlyGlyThrLeuValLeuGlyThrIleLeuPheLeuValSerGlnGlyLeuLeuSerLeuGlnAlaLysGlnGluTyrCysLeuLysProGluCysIleGluAlaAlaAlaAlaIleLeuSerLysValAsnLeuSerValAspProCysAspAsnPhePheArgPheAlaCysAspGlyTrpIleSerAsnAsnProIleProGluAspMetProSerTyrGlyValTyrProTrpLeuArgHisAsnValAspLeuLysLeuLysGluLeuLeuGluLysSerIleSerArgArgArgAspThrGluAlaIleGlnLysAlaLysIleLeuTyrSerSerCysMetAsnGluLysAlaIleGluLysAlaAspAlaLysProLeuLeuHisIleLeuArgHisSerProPheArgTrpProValLeuGluSerAsnIleGlyProGluGlyValTrpSerGluArgLysPheSerLeuLeuGlnThrLeuAlaThrPheArgGlyGlnTyrSerAsnSerValPheIleArgLeuTyrValSerProAspAspLysAlaSerAsnGluHisIleLeuLysLeuAspGlnAlaThrLeuSerLeuAlaValArgGluAspTyrLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013825",
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "referenceAllele": "C",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_001282754.1:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269683.1:p.Arg20Ter",
        "hgvsWellDefined": "NP_001269683.1:p.Arg20_Asn695delinsIleAlaLeuValValPheValGlyGlyThrLeuValLeuGlyThrIleLeuPheLeuValSerGlnGlyLeuLeuSerLeuGlnAlaLysGlnGluTyrCysLeuLysProGluCysIleGluAlaAlaAlaAlaIleLeuSerLysValAsnLeuSerValAspProCysAspAsnPhePheArgPheAlaCysAspGlyTrpIleSerAsnAsnProIleProGluAspMetProSerTyrGlyValTyrProTrpLeuArgHisAsnValAspLeuLysLeuLysGluLeuLeuGluLysSerIleSerArgArgArgAspThrGluAlaIleGlnLysAlaLysIleLeuTyrSerSerCysMetAsnGluLysAlaIleGluLysAlaAspAlaLysProLeuLeuHisIleLeuArgHisSerProPheArgTrpProValLeuGluSerAsnIleGlyProGluGlyValTrpSerGluArgLysPheSerLeuLeuGlnThrLeuAlaThrPheArgGlyGlnTyrSerAsnSerValPheIleArgLeuTyrValSerProAspAspLysAlaSerAsnGluHisIleLeuLysLeuAspGlnAlaThrLeuSerLeuAlaValArgGluAspTyrLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisGlyGlnTrpCysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_011545535.1:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543837.1:p.Arg20Ter",
        "hgvsWellDefined": "XP_011543837.1:p.Arg20_Tyr475delinsIleAlaLeuValValPheValGlyGlyThrLeuValLeuGlyThrIleLeuPheLeuValSerGlnGlyLeuLeuSerLeuGlnAlaLysGlnGluTyrCysLeuLysProGluCysIleGluAlaAlaAlaAlaIleLeuSerLysValAsnLeuSerValAspProCysAspAsnPhePheArgPheAlaCysAspGlyTrpIleSerAsnAsnProIleProGluAspMetProSerTyrGlyValTyrProTrpLeuArgHisAsnValAspLeuLysLeuLysGluLeuLeuGluLysSerIleSerArgArgArgAspThrGluAlaIleGlnLysAlaLysIleLeuTyrSerSerCysMetAsnGluLysAlaIleGluLysAlaAspAlaLysProLeuLeuHisIleLeuArgHisSerProPheArgTrpProValLeuGluSerAsnIleGlyProGluGlyValTrpSerGluArgLysPheSerLeuLeuGlnThrLeuAlaThrPheArgGlyGlnTyrSerAsnSerValPheIleArgLeuTyrValSerProAspAspLysAlaSerAsnGluHisIleLeuLysLeuAspGlnAlaThrLeuSerLeuAlaValArgGluAspTyrLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysValGlyProLeuSerGluTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XR_001755695.1:n.737C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601328"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645376570",
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_000444.6:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000435.3:p.Arg20Ter",
        "hgvsWellDefined": "NP_000435.3:p.Arg20_Trp749delinsIleAlaLeuValValPheValGlyGlyThrLeuValLeuGlyThrIleLeuPheLeuValSerGlnGlyLeuLeuSerLeuGlnAlaLysGlnGluTyrCysLeuLysProGluCysIleGluAlaAlaAlaAlaIleLeuSerLysValAsnLeuSerValAspProCysAspAsnPhePheArgPheAlaCysAspGlyTrpIleSerAsnAsnProIleProGluAspMetProSerTyrGlyValTyrProTrpLeuArgHisAsnValAspLeuLysLeuLysGluLeuLeuGluLysSerIleSerArgArgArgAspThrGluAlaIleGlnLysAlaLysIleLeuTyrSerSerCysMetAsnGluLysAlaIleGluLysAlaAspAlaLysProLeuLeuHisIleLeuArgHisSerProPheArgTrpProValLeuGluSerAsnIleGlyProGluGlyValTrpSerGluArgLysPheSerLeuLeuGlnThrLeuAlaThrPheArgGlyGlnTyrSerAsnSerValPheIleArgLeuTyrValSerProAspAspLysAlaSerAsnGluHisIleLeuLysLeuAspGlnAlaThrLeuSerLeuAlaValArgGluAspTyrLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379374.5:c.58C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000444.6:c.58C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368682.4:p.Arg20Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000435.3:p.Arg20Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013825",
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_001282754.2:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269683.1:p.Arg20Ter",
        "hgvsWellDefined": "NP_001269683.1:p.Arg20_Asn695delinsIleAlaLeuValValPheValGlyGlyThrLeuValLeuGlyThrIleLeuPheLeuValSerGlnGlyLeuLeuSerLeuGlnAlaLysGlnGluTyrCysLeuLysProGluCysIleGluAlaAlaAlaAlaIleLeuSerLysValAsnLeuSerValAspProCysAspAsnPhePheArgPheAlaCysAspGlyTrpIleSerAsnAsnProIleProGluAspMetProSerTyrGlyValTyrProTrpLeuArgHisAsnValAspLeuLysLeuLysGluLeuLeuGluLysSerIleSerArgArgArgAspThrGluAlaIleGlnLysAlaLysIleLeuTyrSerSerCysMetAsnGluLysAlaIleGluLysAlaAspAlaLysProLeuLeuHisIleLeuArgHisSerProPheArgTrpProValLeuGluSerAsnIleGlyProGluGlyValTrpSerGluArgLysPheSerLeuLeuGlnThrLeuAlaThrPheArgGlyGlnTyrSerAsnSerValPheIleArgLeuTyrValSerProAspAspLysAlaSerAsnGluHisIleLeuLysLeuAspGlnAlaThrLeuSerLeuAlaValArgGluAspTyrLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisGlyGlnTrpCysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681890"
    }
  ],
  "type": "nucleotide"
}