{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA286411211",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.34C>T (p.Gln12Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1036428[alleleid]",
        "alleleId": 1036428,
        "preferredName": "NM_000512.5(GALNS):c.34C>T (p.Gln12Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048249",
        "RCV": [
          "RCV001578349"
        ],
        "variationId": 1048249
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88923252G>A?assembly=hg19",
        "id": "chr16:g.88923252G>A"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88856844G>A?assembly=hg38",
        "id": "chr16:g.88856844G>A"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/911452920",
        "rs": 911452920
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88856844-G-A?dataset=gnomad_r4",
        "id": "16-88856844-G-A",
        "variant": "16:88856844 G / A"
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    ]
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    {
      "chromosome": "16",
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        {
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
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    },
    {
      "chromosome": "16",
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS743065",
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        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS252095"
    },
    {
      "coordinates": [
        {
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          "end": 27,
          "endIntronDirection": "+",
          "endIntronOffset": 598,
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          "startIntronOffset": 597
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      "geneNCBI_id": 51693,
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS380693"
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    {
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          "end": 88,
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          "start": 87
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232990",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
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    {
      "coordinates": [
        {
          "allele": "A",
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          "endIntronDirection": "+",
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      "referenceSequence": "http://reg.genome.network/refseq/RS527775"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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        }
      ],
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      "proteinEffect": {
        "hgvs": "XP_016878602.1:n.-398C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232990",
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "C",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.34C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Gln12Ter",
        "hgvsWellDefined": "NP_000503.1:p.Gln12_His522delinsLeuLeuLeuValLeuSerAlaAlaGlyMetGlyAlaSerGlyAlaProGlnProProAsnIleLeuLeuLeuLeuMetAspAspMetGlyTrpGlyAspLeuGlyValTyrGlyGluProSerArgGluThrProAsnLeuAspArgMetAlaAlaGluGlyLeuLeuPheProAsnPheTyrSerAlaAsnProLeuCysSerProSerArgAlaAlaLeuLeuThrGlyArgLeuProIleArgAsnGlyPheTyrThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.34C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.34C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Gln12Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Gln12Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "C",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.-398C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.-398C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "C",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.-119C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:n.-119C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27,
          "endIntronDirection": "+",
          "endIntronOffset": 598,
          "referenceAllele": "G",
          "start": 27,
          "startIntronDirection": "+",
          "startIntronOffset": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030887",
      "geneNCBI_id": 51693,
      "geneSymbol": "TRAPPC2L",
      "hgvs": [
        "NR_134671.2:n.27+598G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730882"
    }
  ],
  "type": "nucleotide"
}