{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA372937253",
  "communityStandardTitle": [
    "NM_000550.3(TYRP1):c.497C>A (p.Ser166Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.12695626C>A?assembly=hg19",
        "id": "chr9:g.12695626C>A"
      }
    ],
    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr9:g.12695626C>A?assembly=hg38",
        "id": "chr9:g.12695626C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894130",
        "rs": 104894130
      }
    ]
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      "chromosome": "9",
      "coordinates": [
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          "allele": "A",
          "end": 12695626,
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          "start": 12695625
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        "CM000671.2:g.12695626C>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
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          "end": 12695626,
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        }
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      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
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          "end": 12685626,
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          "start": 12685625
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      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7241,
          "referenceAllele": "C",
          "start": 7240
        }
      ],
      "hgvs": [
        "NG_011705.1:g.7241C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001914"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "end": 676,
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          "start": 675
        }
      ],
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      "geneNCBI_id": 7306,
      "geneSymbol": "TYRP1",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752761",
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        "maneStatus": "MANE Select",
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          "RefSeq": {
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        "protein": {
          "Ensembl": {
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          }
        }
      }
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    {
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        {
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          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012450",
      "geneNCBI_id": 7306,
      "geneSymbol": "TYRP1",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127293",
      "coordinates": [
        {
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          "end": 675,
          "referenceAllele": "C",
          "start": 674
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      ],
      "gene": "http://reg.genome.network/gene/GN012450",
      "geneNCBI_id": 7306,
      "geneSymbol": "TYRP1",
      "hgvs": [
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        "hgvsWellDefined": "NP_000541.1:p.Ser166_Val537delinsGluGluIleLeuGlyProAspGlyAsnThrProGlnPheGluAsnIleSerIleTyrAsnTyrPheValTrpThrHisTyrTyrSerValLysLysThrPheLeuGlyValGlyGlnGluSerPheGlyGluValAspPheSerHisGluGlyProAlaPheLeuThrTrpHisArgTyrHisLeuLeuArgLeuGluLysAspMetGlnGluMetLeuGlnGluProSerPheSerLeuProTyrTrpAsnPheAlaThrGlyLysAsnValCysAspIleCysThrAspAspLeuMetGlySerArgSerAsnPheAspSerThrLeuIleSerProAsnSerValPheSerGlnTrpArgValValCysAspSerLeuGluAspTyrAspThrLeuGlyThrLeuCysAsnSerThrGluAspGlyProIleArgArgAsnProAlaGlyAsnValAlaArgProMetValGlnArgLeuProGluProGlnAspValAlaGlnCysLeuGluValGlyLeuPheAspThrProProPheTyrSerAsnSerThrAsnSerPheArgAsnThrValGluGlyTyrSerAspProThrGlyLysTyrAspProAlaValArgSerLeuHisAsnLeuAlaHisLeuPheLeuAsnGlyThrGlyGlyGlnThrHisLeuSerProAsnAspProIlePheValLeuLeuHisThrPheThrAspAlaValPheAspGluTrpLeuArgArgTyrAsnAlaAspIleSerThrPheProLeuGluAsnAlaProIleGlyHisAsnArgGlnTyrAsnMetValProPheTrpProProValThrAsnThrGluMetPheValThrAlaProAspAsnLeuGlyTyrThrTyrGluIleGlnTrpProSerArgGluPheSerValProGluIleIleAlaIleAlaValValGlyAlaLeuLeuLeuValAlaLeuIlePheGlyThrAlaSerTyrLeuIleArgAlaArgArgSerMetAspGluAlaAsnGlnProLeuLeuThrAspGlnTyrGlnCysTyrAlaGluGluTyrGluLysLeuGlnAsnProAsnGlnSerValValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 686,
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      "gene": "http://reg.genome.network/gene/GN012450",
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      "hgvs": [
        "XR_001746372.2:n.686C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594705"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127293",
      "coordinates": [
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        }
      ],
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      "geneNCBI_id": 7306,
      "geneSymbol": "TYRP1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000541.1:p.Ser166_Val537delinsGluGluIleLeuGlyProAspGlyAsnThrProGlnPheGluAsnIleSerIleTyrAsnTyrPheValTrpThrHisTyrTyrSerValLysLysThrPheLeuGlyValGlyGlnGluSerPheGlyGluValAspPheSerHisGluGlyProAlaPheLeuThrTrpHisArgTyrHisLeuLeuArgLeuGluLysAspMetGlnGluMetLeuGlnGluProSerPheSerLeuProTyrTrpAsnPheAlaThrGlyLysAsnValCysAspIleCysThrAspAspLeuMetGlySerArgSerAsnPheAspSerThrLeuIleSerProAsnSerValPheSerGlnTrpArgValValCysAspSerLeuGluAspTyrAspThrLeuGlyThrLeuCysAsnSerThrGluAspGlyProIleArgArgAsnProAlaGlyAsnValAlaArgProMetValGlnArgLeuProGluProGlnAspValAlaGlnCysLeuGluValGlyLeuPheAspThrProProPheTyrSerAsnSerThrAsnSerPheArgAsnThrValGluGlyTyrSerAspProThrGlyLysTyrAspProAlaValArgSerLeuHisAsnLeuAlaHisLeuPheLeuAsnGlyThrGlyGlyGlnThrHisLeuSerProAsnAspProIlePheValLeuLeuHisThrPheThrAspAlaValPheAspGluTrpLeuArgArgTyrAsnAlaAspIleSerThrPheProLeuGluAsnAlaProIleGlyHisAsnArgGlnTyrAsnMetValProPheTrpProProValThrAsnThrGluMetPheValThrAlaProAspAsnLeuGlyTyrThrTyrGluIleGlnTrpProSerArgGluPheSerValProGluIleIleAlaIleAlaValValGlyAlaLeuLeuLeuValAlaLeuIlePheGlyThrAlaSerTyrLeuIleArgAlaArgArgSerMetAspGluAlaAsnGlnProLeuLeuThrAspGlnTyrGlnCysTyrAlaGluGluTyrGluLysLeuGlnAsnProAsnGlnSerValValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674888",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388918.10:c.497C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000550.3:c.497C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373570.4:p.Ser166Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000541.1:p.Ser166Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}