{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA360753408",
  "communityStandardTitle": [
    "NM_001999.4(FBN2):c.7630C>T (p.Gln2544Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227275[alleleid]",
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        "preferredName": "NM_001999.4(FBN2):c.7630C>T (p.Gln2544Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225357",
        "RCV": [
          "RCV000490469"
        ],
        "variationId": 225357
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.127610340G>A?assembly=hg19",
        "id": "chr5:g.127610340G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.128274648G>A?assembly=hg38",
        "id": "chr5:g.128274648G>A"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307066",
        "rs": 1085307066
      }
    ]
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      "chromosome": "5",
      "coordinates": [
        {
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      "referenceGenome": "GRCh38",
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    {
      "chromosome": "5",
      "coordinates": [
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      "referenceGenome": "GRCh37",
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    {
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS001199"
    }
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  "transcriptAlleles": [
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS911943"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742354",
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        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_001999.4:c.7630C>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8605,
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      ],
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 7626
        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645465115",
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7751,
          "referenceAllele": "C",
          "start": 7750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_016864717.1:p.Gln2493Ter",
        "hgvsWellDefined": "XP_016864717.1:p.Gln2493_Tyr2861delinsPheLeuCysValAsnThrLeuGlyGlyPheThrCysLysCysProProGlyPheThrGlnHisHisThrAlaCysIleAspAsnAsnGluCysGlySerGlnProSerLeuCysGlyAlaLysGlyIleCysGlnAsnThrProGlySerPheSerCysGluCysGlnArgGlyPheSerLeuAspAlaThrGlyLeuAsnCysGluAspValAspGluCysAspGlyAsnHisArgCysGlnHisGlyCysGlnAsnIleLeuGlyGlyTyrArgCysGlyCysProGlnGlyTyrIleGlnHisTyrGlnTrpAsnGlnCysValAspGluAsnGluCysSerAsnProAsnAlaCysGlySerAlaSerCysTyrAsnThrLeuGlySerTyrLysCysAlaCysProSerGlyPheSerPheAspGlnPheSerSerAlaCysHisAspValAsnGluCysSerSerSerLysAsnProCysAsnTyrGlyCysSerAsnThrGluGlyGlyTyrLeuCysGlyCysProProGlyTyrTyrArgValGlyGlnGlyHisCysValSerGlyMetGlyPheAsnLysGlyGlnTyrLeuSerLeuAspThrGluValAspGluGluAsnAlaLeuSerProGluAlaCysTyrGluCysLysIleAsnGlyTyrSerLysLysAspSerArgGlnLysArgSerIleHisGluProAspProThrAlaValGluGlnIleSerLeuGluSerValAspMetAspSerProValAsnMetLysPheAsnLeuSerHisLeuGlySerLysGluHisIleLeuGluLeuArgProAlaIleGlnProLeuAsnAsnHisIleArgTyrValIleSerGlnGlyAsnAspAspSerValPheArgIleHisGlnArgAsnGlyLeuSerTyrLeuHisThrAlaLysLysLysLeuMetProGlyThrTyrThrLeuGluIleThrSerIleProLeuTyrLysLysLysGluLeuLysLysLeuGluGluSerAsnGluAspAspTyrLeuLeuGlyGluLeuGlyGluAlaLeuArgMetArgLeuGlnIleGlnLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645465115",
      "coordinates": [
        {
          "allele": "T",
          "end": 8272,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001990.2:p.Gln2544Ter",
        "hgvsWellDefined": "NP_001990.2:p.Gln2544_Tyr2912delinsPheLeuCysValAsnThrLeuGlyGlyPheThrCysLysCysProProGlyPheThrGlnHisHisThrAlaCysIleAspAsnAsnGluCysGlySerGlnProSerLeuCysGlyAlaLysGlyIleCysGlnAsnThrProGlySerPheSerCysGluCysGlnArgGlyPheSerLeuAspAlaThrGlyLeuAsnCysGluAspValAspGluCysAspGlyAsnHisArgCysGlnHisGlyCysGlnAsnIleLeuGlyGlyTyrArgCysGlyCysProGlnGlyTyrIleGlnHisTyrGlnTrpAsnGlnCysValAspGluAsnGluCysSerAsnProAsnAlaCysGlySerAlaSerCysTyrAsnThrLeuGlySerTyrLysCysAlaCysProSerGlyPheSerPheAspGlnPheSerSerAlaCysHisAspValAsnGluCysSerSerSerLysAsnProCysAsnTyrGlyCysSerAsnThrGluGlyGlyTyrLeuCysGlyCysProProGlyTyrTyrArgValGlyGlnGlyHisCysValSerGlyMetGlyPheAsnLysGlyGlnTyrLeuSerLeuAspThrGluValAspGluGluAsnAlaLeuSerProGluAlaCysTyrGluCysLysIleAsnGlyTyrSerLysLysAspSerArgGlnLysArgSerIleHisGluProAspProThrAlaValGluGlnIleSerLeuGluSerValAspMetAspSerProValAsnMetLysPheAsnLeuSerHisLeuGlySerLysGluHisIleLeuGluLeuArgProAlaIleGlnProLeuAsnAsnHisIleArgTyrValIleSerGlnGlyAsnAspAspSerValPheArgIleHisGlnArgAsnGlyLeuSerTyrLeuHisThrAlaLysLysLysLeuMetProGlyThrTyrThrLeuGluIleThrSerIleProLeuTyrLysLysLysGluLeuLysLysLeuGluGluSerAsnGluAspAspTyrLeuLeuGlyGluLeuGlyGluAlaLeuArgMetArgLeuGlnIleGlnLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262464.9:c.7630C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001999.4:c.7630C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262464.4:p.Gln2544Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001990.2:p.Gln2544Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}