{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA248375",
  "communityStandardTitle": [
    "NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200976[alleleid]",
        "alleleId": 200976,
        "preferredName": "NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204586",
        "RCV": [
          "RCV000186583",
          "RCV001382879"
        ],
        "variationId": 204586
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.40688657G>T?assembly=hg19",
        "id": "chr17:g.40688657G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42536639G>T?assembly=hg38",
        "id": "chr17:g.42536639G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796052123",
        "rs": 796052123
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42536639-G-T?dataset=gnomad_r4",
        "id": "17-42536639-G-T",
        "variant": "17:42536639 G / T"
      }
    ]
  },
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    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42536639,
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          "start": 42536638
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42536639G>T",
        "CM000679.2:g.42536639G>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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          "end": 40688657,
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          "start": 40688656
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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          "end": 37942183,
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          "start": 37942182
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
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        "NG_011552.1:g.5707G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001811"
    }
  ],
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS740682",
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            "hgvs": "NM_000263.4:c.367G>T"
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    {
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        {
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          "start": 467
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN007632",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS389440"
    },
    {
      "coordinates": [
        {
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000467836.1:p.Arg37Leu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS392972"
    },
    {
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        {
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      ],
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      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "NM_000263.3:c.367G>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000254.2:p.Glu123_Trp743delinsAlaThrProAsnArgTyrArgTyrTyrGlnAsnValCysThrGlnSerTyrSerPheValTrpTrpAspTrpAlaArgTrpGluArgGluIleAspTrpMetAlaLeuAsnGlyIleAsnLeuAlaLeuAlaTrpSerGlyGlnGluAlaIleTrpGlnArgValTyrLeuAlaLeuGlyLeuThrGlnAlaGluIleAsnGluPhePheThrGlyProAlaPheLeuAlaTrpGlyArgMetGlyAsnLeuHisThrTrpAspGlyProLeuProProSerTrpHisIleLysGlnLeuTyrLeuGlnHisArgValLeuAspGlnMetArgSerPheGlyMetThrProValLeuProAlaPheAlaGlyHisValProGluAlaValThrArgValPheProGlnValAsnValThrLysMetGlySerTrpGlyHisPheAsnCysSerTyrSerCysSerPheLeuLeuAlaProGluAspProIlePheProIleIleGlySerLeuPheLeuArgGluLeuIleLysGluPheGlyThrAspHisIleTyrGlyAlaAspThrPheAsnGluMetGlnProProSerSerGluProSerTyrLeuAlaAlaAlaThrThrAlaValTyrGluAlaMetThrAlaValAspThrGluAlaValTrpLeuLeuGlnGlyTrpLeuPheGlnHisGlnProGlnPheTrpGlyProAlaGlnIleArgAlaValLeuGlyAlaValProArgGlyArgLeuLeuValLeuAspLeuPheAlaGluSerGlnProValTyrThrArgThrAlaSerPheGlnGlyGlnProPheIleTrpCysMetLeuHisAsnPheGlyGlyAsnHisGlyLeuPheGlyAlaLeuGluAlaValAsnGlyGlyProGluAlaAlaArgLeuPheProAsnSerThrMetValGlyThrGlyMetAlaProGluGlyIleSerGlnAsnGluValValTyrSerLeuMetAlaGluLeuGlyTrpArgLysAspProValProAspLeuAlaAlaTrpValThrSerPheAlaAlaArgArgTyrGlyValSerHisProAspAlaGlyAlaAlaTrpArgLeuLeuLeuArgSerValTyrAsnCysSerGlyGluAlaCysArgGlyHisAsnArgSerProLeuValArgArgProSerLeuGlnMetAsnThrSerIleTrpTyrAsnArgSerAspValPheGluAlaTrpArgLeuLeuLeuThrSerAlaProSerLeuAlaThrSerProAlaPheArgTyrAspLeuLeuAspLeuThrArgGlnAlaValGlnGluLeuValSerLeuTyrTyrGluGluAlaArgSerAlaTyrLeuSerLysGluLeuAlaSerLeuLeuArgAlaGlyGlyValLeuAlaTyrGluLeuLeuProAlaLeuAspGluValLeuAlaSerAspSerArgPheLeuLeuGlySerTrpLeuGluGlnAlaArgAlaAlaAlaValSerGluAlaGluAlaAspPheTyrGluGlnAsnSerArgTyrGlnLeuThrLeuTrpGlyProGluGlyAsnIleLeuAspTyrAlaAsnLysGlnLeuAlaGlyLeuValAlaAsnTyrTyrThrProArgTrpArgLeuPheLeuGluAlaLeuValAspSerValAlaGlnGlyIleProPheGlnGlnHisGlnPheAspLysAsnValPheGlnLeuGluGlnAlaPheValLeuSerLysGlnArgTyrProSerGlnProArgGlyAspThrValAspLeuAlaLysLysIlePheLeuLysTyrTyrProArgTrpValAlaGlySerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 99
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      ],
      "gene": "http://reg.genome.network/gene/GN007632",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_006721983.1:n.-376G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS074317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011523142.1:n.-376G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS091960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2402,
          "referenceAllele": "G",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
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      "hgvs": [
        "XM_024450771.1:c.367G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306539.1:p.Glu123Ter",
        "hgvsWellDefined": "XP_024306539.1:p.Glu123_Trp762delinsAlaThrProAsnArgAlaSerAlaGlyProProGluLysArgLysGluAspAlaTyrArgAlaValLeuLeuTyrArgTyrTyrGlnAsnValCysThrGlnSerTyrSerPheValTrpTrpAspTrpAlaArgTrpGluArgGluIleAspTrpMetAlaLeuAsnGlyIleAsnLeuAlaLeuAlaTrpSerGlyGlnGluAlaIleTrpGlnArgValTyrLeuAlaLeuGlyLeuThrGlnAlaGluIleAsnGluPhePheThrGlyProAlaPheLeuAlaTrpGlyArgMetGlyAsnLeuHisThrTrpAspGlyProLeuProProSerTrpHisIleLysGlnLeuTyrLeuGlnHisArgValLeuAspGlnMetArgSerPheGlyMetThrProValLeuProAlaPheAlaGlyHisValProGluAlaValThrArgValPheProGlnValAsnValThrLysMetGlySerTrpGlyHisPheAsnCysSerTyrSerCysSerPheLeuLeuAlaProGluAspProIlePheProIleIleGlySerLeuPheLeuArgGluLeuIleLysGluPheGlyThrAspHisIleTyrGlyAlaAspThrPheAsnGluMetGlnProProSerSerGluProSerTyrLeuAlaAlaAlaThrThrAlaValTyrGluAlaMetThrAlaValAspThrGluAlaValTrpLeuLeuGlnGlyTrpLeuPheGlnHisGlnProGlnPheTrpGlyProAlaGlnIleArgAlaValLeuGlyAlaValProArgGlyArgLeuLeuValLeuAspLeuPheAlaGluSerGlnProValTyrThrArgThrAlaSerPheGlnGlyGlnProPheIleTrpCysMetLeuHisAsnPheGlyGlyAsnHisGlyLeuPheGlyAlaLeuGluAlaValAsnGlyGlyProGluAlaAlaArgLeuPheProAsnSerThrMetValGlyThrGlyMetAlaProGluGlyIleSerGlnAsnGluValValTyrSerLeuMetAlaGluLeuGlyTrpArgLysAspProValProAspLeuAlaAlaTrpValThrSerPheAlaAlaArgArgTyrGlyValSerHisProAspAlaGlyAlaAlaTrpArgLeuLeuLeuArgSerValTyrAsnCysSerGlyGluAlaCysArgGlyHisAsnArgSerProLeuValArgArgProSerLeuGlnMetAsnThrSerIleTrpTyrAsnArgSerAspValPheGluAlaTrpArgLeuLeuLeuThrSerAlaProSerLeuAlaThrSerProAlaPheArgTyrAspLeuLeuAspLeuThrArgGlnAlaValGlnGluLeuValSerLeuTyrTyrGluGluAlaArgSerAlaTyrLeuSerLysGluLeuAlaSerLeuLeuArgAlaGlyGlyValLeuAlaTyrGluLeuLeuProAlaLeuAspGluValLeuAlaSerAspSerArgPheLeuLeuGlySerTrpLeuGluGlnAlaArgAlaAlaAlaValSerGluAlaGluAlaAspPheTyrGluGlnAsnSerArgTyrGlnLeuThrLeuTrpGlyProGluGlyAsnIleLeuAspTyrAlaAsnLysGlnLeuAlaGlyLeuValAlaAsnTyrTyrThrProArgTrpArgLeuPheLeuGluAlaLeuValAspSerValAlaGlnGlyIleProPheGlnGlnHisGlnPheAspLysAsnValPheGlnLeuGluGlnAlaPheValLeuSerLysGlnArgTyrProSerGlnProArgGlyAspThrValAspLeuAlaLysLysIlePheLeuLysTyrTyrProArgTrpValAlaGlySerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA248376",
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "geneNCBI_id": 4669,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000254.2:p.Glu123Ter",
        "hgvsWellDefined": "NP_000254.2:p.Glu123_Trp743delinsAlaThrProAsnArgTyrArgTyrTyrGlnAsnValCysThrGlnSerTyrSerPheValTrpTrpAspTrpAlaArgTrpGluArgGluIleAspTrpMetAlaLeuAsnGlyIleAsnLeuAlaLeuAlaTrpSerGlyGlnGluAlaIleTrpGlnArgValTyrLeuAlaLeuGlyLeuThrGlnAlaGluIleAsnGluPhePheThrGlyProAlaPheLeuAlaTrpGlyArgMetGlyAsnLeuHisThrTrpAspGlyProLeuProProSerTrpHisIleLysGlnLeuTyrLeuGlnHisArgValLeuAspGlnMetArgSerPheGlyMetThrProValLeuProAlaPheAlaGlyHisValProGluAlaValThrArgValPheProGlnValAsnValThrLysMetGlySerTrpGlyHisPheAsnCysSerTyrSerCysSerPheLeuLeuAlaProGluAspProIlePheProIleIleGlySerLeuPheLeuArgGluLeuIleLysGluPheGlyThrAspHisIleTyrGlyAlaAspThrPheAsnGluMetGlnProProSerSerGluProSerTyrLeuAlaAlaAlaThrThrAlaValTyrGluAlaMetThrAlaValAspThrGluAlaValTrpLeuLeuGlnGlyTrpLeuPheGlnHisGlnProGlnPheTrpGlyProAlaGlnIleArgAlaValLeuGlyAlaValProArgGlyArgLeuLeuValLeuAspLeuPheAlaGluSerGlnProValTyrThrArgThrAlaSerPheGlnGlyGlnProPheIleTrpCysMetLeuHisAsnPheGlyGlyAsnHisGlyLeuPheGlyAlaLeuGluAlaValAsnGlyGlyProGluAlaAlaArgLeuPheProAsnSerThrMetValGlyThrGlyMetAlaProGluGlyIleSerGlnAsnGluValValTyrSerLeuMetAlaGluLeuGlyTrpArgLysAspProValProAspLeuAlaAlaTrpValThrSerPheAlaAlaArgArgTyrGlyValSerHisProAspAlaGlyAlaAlaTrpArgLeuLeuLeuArgSerValTyrAsnCysSerGlyGluAlaCysArgGlyHisAsnArgSerProLeuValArgArgProSerLeuGlnMetAsnThrSerIleTrpTyrAsnArgSerAspValPheGluAlaTrpArgLeuLeuLeuThrSerAlaProSerLeuAlaThrSerProAlaPheArgTyrAspLeuLeuAspLeuThrArgGlnAlaValGlnGluLeuValSerLeuTyrTyrGluGluAlaArgSerAlaTyrLeuSerLysGluLeuAlaSerLeuLeuArgAlaGlyGlyValLeuAlaTyrGluLeuLeuProAlaLeuAspGluValLeuAlaSerAspSerArgPheLeuLeuGlySerTrpLeuGluGlnAlaArgAlaAlaAlaValSerGluAlaGluAlaAspPheTyrGluGlnAsnSerArgTyrGlnLeuThrLeuTrpGlyProGluGlyAsnIleLeuAspTyrAlaAsnLysGlnLeuAlaGlyLeuValAlaAsnTyrTyrThrProArgTrpArgLeuPheLeuGluAlaLeuValAspSerValAlaGlnGlyIleProPheGlnGlnHisGlnPheAspLysAsnValPheGlnLeuGluGlnAlaPheValLeuSerLysGlnArgTyrProSerGlnProArgGlyAspThrValAspLeuAlaLysLysIlePheLeuLysTyrTyrProArgTrpValAlaGlySerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225927.7:c.367G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000263.4:c.367G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225927.1:p.Glu123Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000254.2:p.Glu123Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}