{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1442951",
  "communityStandardTitle": [
    "NM_001100.4(ACTA1):c.16G>T (p.Glu6Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4193210[alleleid]",
        "alleleId": 4193210,
        "preferredName": "NM_001100.4(ACTA1):c.16G>T (p.Glu6Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4081088",
        "RCV": [
          "RCV005635112"
        ],
        "variationId": 4081088
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-229568847-C-A",
        "id": "1-229568847-C-A",
        "variant": "1:229568847 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.229568847C>A?assembly=hg19",
        "id": "chr1:g.229568847C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.229433100C>A?assembly=hg38",
        "id": "chr1:g.229433100C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/367543048",
        "rs": 367543048
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    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-229568847-C-A?dataset=gnomad_r2_1",
        "id": "1-229568847-C-A",
        "variant": "1:229568847 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-229433100-C-A?dataset=gnomad_r4",
        "id": "1-229433100-C-A",
        "variant": "1:229433100 C / A"
      }
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      "chromosome": "1",
      "coordinates": [
        {
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          "start": 229433099
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      ],
      "hgvs": [
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        "CM000663.2:g.229433100C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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      ],
      "hgvs": [
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        "CM000663.1:g.229568847C>A"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 227635470,
          "referenceAllele": "C",
          "start": 227635469
        }
      ],
      "hgvs": [
        "NC_000001.9:g.227635470C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "G",
          "start": 5996
        }
      ],
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        "LRG_429:g.5997G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000440"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "endIntronDirection": "-",
          "endIntronOffset": 219,
          "referenceAllele": "G",
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          "startIntronDirection": "-",
          "startIntronOffset": 220
        }
      ],
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      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000684723.1:c.-6-220G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508084.1:n.-6-220G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS829674"
    },
    {
      "coordinates": [
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          "referenceAllele": "G",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000355644.3:p.Glu6_Phe254delinsThrThrAlaLeuValCysAspAsnGlySerGlyLeuValLysAlaGlyPheAlaGlyAspAspAlaProArgAlaValPheProSerIleValGlyArgProArgHisGlnGlyValMetValGlyMetGlyGlnLysAspSerTyrValGlyAspGluAlaGlnSerLysArgGlyIleLeuThrLeuLysTyrProIleGluHisGlyIleIleThrAsnTrpAspAspMetGluLysIleTrpHisHisThrPheTyrAsnGluLeuArgValAlaProGluGluHisProThrLeuLeuThrGluAlaProLeuAsnProLysAlaAsnArgGluLysMetThrGlnIleMetPheGluThrPheAsnValProAlaMetTyrValAlaIleGlnAlaValLeuSerLeuTyrAlaSerGlyArgThrThrGlyIleValLeuAspSerGlyAspGlyIleMetLysCysAspIleAspIleArgLysAspLeuTyrAlaAsnAsnValMetSerGlyGlyThrThrMetTyrProGlyIleAlaAspArgMetGlnLysGluIleThrAlaLeuAlaProSerThrMetLysIleLysIleIleAlaProProGluArgLysTyrSerValTrpIleGlyGlySerIleLeuAlaSerLeuSerThrPheGlnGlnMetTrpIleThrLysGlnGluTyrAspGluAlaGlyProSerIleValHisArgLysCysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265964",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000366684.7:c.16G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001100.4:c.16G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355645.3:p.Glu6Ter"
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          "RefSeq": {
            "hgvs": "NP_001091.1:p.Glu6Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064050481",
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "referenceAllele": "G",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
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        "LRG_429t1:c.16G>T"
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      "proteinEffect": {
        "hgvs": "NP_001091.1:p.Glu6Ter",
        "hgvsWellDefined": "NP_001091.1:p.Glu6_Phe377delinsThrThrAlaLeuValCysAspAsnGlySerGlyLeuValLysAlaGlyPheAlaGlyAspAspAlaProArgAlaValPheProSerIleValGlyArgProArgHisGlnGlyValMetValGlyMetGlyGlnLysAspSerTyrValGlyAspGluAlaGlnSerLysArgGlyIleLeuThrLeuLysTyrProIleGluHisGlyIleIleThrAsnTrpAspAspMetGluLysIleTrpHisHisThrPheTyrAsnGluLeuArgValAlaProGluGluHisProThrLeuLeuThrGluAlaProLeuAsnProLysAlaAsnArgGluLysMetThrGlnIleMetPheGluThrPheAsnValProAlaMetTyrValAlaIleGlnAlaValLeuSerLeuTyrAlaSerGlyArgThrThrGlyIleValLeuAspSerGlyAspGlyValThrHisAsnValProIleTyrGluGlyTyrAlaLeuProHisAlaIleMetArgLeuAspLeuAlaGlyArgAspLeuThrAspTyrLeuMetLysIleLeuThrGluArgGlyTyrSerPheValThrThrAlaGluArgGluIleValArgAspIleLysGluLysLeuCysTyrValAlaLeuAspPheGluAsnGluMetAlaThrAlaAlaSerSerSerSerLeuGluLysSerTyrGluLeuProAspGlyGlnValIleThrIleGlyAsnGluArgPheArgCysProGluThrLeuPheGlnProSerPheIleGlyMetGluSerAlaGlyIleHisGluThrThrTyrAsnSerIleMetLysCysAspIleAspIleArgLysAspLeuTyrAlaAsnAsnValMetSerGlyGlyThrThrMetTyrProGlyIleAlaAspArgMetGlnLysGluIleThrAlaLeuAlaProSerThrMetLysIleLysIleIleAlaProProGluArgLysTyrSerValTrpIleGlyGlySerIleLeuAlaSerLeuSerThrPheGlnGlnMetTrpIleThrLysGlnGluTyrAspGluAlaGlyProSerIleValHisArgLysCysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064050481",
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "G",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001091.1:p.Glu6_Phe377delinsThrThrAlaLeuValCysAspAsnGlySerGlyLeuValLysAlaGlyPheAlaGlyAspAspAlaProArgAlaValPheProSerIleValGlyArgProArgHisGlnGlyValMetValGlyMetGlyGlnLysAspSerTyrValGlyAspGluAlaGlnSerLysArgGlyIleLeuThrLeuLysTyrProIleGluHisGlyIleIleThrAsnTrpAspAspMetGluLysIleTrpHisHisThrPheTyrAsnGluLeuArgValAlaProGluGluHisProThrLeuLeuThrGluAlaProLeuAsnProLysAlaAsnArgGluLysMetThrGlnIleMetPheGluThrPheAsnValProAlaMetTyrValAlaIleGlnAlaValLeuSerLeuTyrAlaSerGlyArgThrThrGlyIleValLeuAspSerGlyAspGlyValThrHisAsnValProIleTyrGluGlyTyrAlaLeuProHisAlaIleMetArgLeuAspLeuAlaGlyArgAspLeuThrAspTyrLeuMetLysIleLeuThrGluArgGlyTyrSerPheValThrThrAlaGluArgGluIleValArgAspIleLysGluLysLeuCysTyrValAlaLeuAspPheGluAsnGluMetAlaThrAlaAlaSerSerSerSerLeuGluLysSerTyrGluLeuProAspGlyGlnValIleThrIleGlyAsnGluArgPheArgCysProGluThrLeuPheGlnProSerPheIleGlyMetGluSerAlaGlyIleHisGluThrThrTyrAsnSerIleMetLysCysAspIleAspIleArgLysAspLeuTyrAlaAsnAsnValMetSerGlyGlyThrThrMetTyrProGlyIleAlaAspArgMetGlnLysGluIleThrAlaLeuAlaProSerThrMetLysIleLysIleIleAlaProProGluArgLysTyrSerValTrpIleGlyGlySerIleLeuAlaSerLeuSerThrPheGlnGlnMetTrpIleThrLysGlnGluTyrAspGluAlaGlyProSerIleValHisArgLysCysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366684.7:c.16G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001100.4:c.16G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355645.3:p.Glu6Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001091.1:p.Glu6Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}