{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10576052",
  "communityStandardTitle": [
    "NM_001166412.2(SMOC2):c.648T>A (p.Cys216Ter)"
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        "preferredName": "NM_001166412.2(SMOC2):c.648T>A (p.Cys216Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225685",
        "RCV": [
          "RCV000210957"
        ],
        "variationId": 225685
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.168999508T>A?assembly=hg19",
        "id": "chr6:g.168999508T>A"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr6:g.168598828T>A?assembly=hg38",
        "id": "chr6:g.168598828T>A"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/875989843",
        "rs": 875989843
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      "chromosome": "6",
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "6",
      "coordinates": [
        {
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          "start": 168999507
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        "CM000668.1:g.168999508T>A"
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "6",
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
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        "NG_032781.1:g.162678T>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS005218"
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      "geneSymbol": "SMOC2",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748775",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_001166412.2:c.648T>A"
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        },
        "protein": {
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          "RefSeq": {
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      }
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          "start": 900
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      "geneSymbol": "SMOC2",
      "hgvs": [
        "ENST00000354536.9:c.681T>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000346537.5:p.Cys227_Gly457delinsAspGlnGluHisGlnSerAlaLeuGluGluAlaLysGlnProLysAsnAspAsnValValIleProGluCysAlaHisGlyGlyLeuTyrLysProValGlnCysHisProSerThrGlyTyrCysTrpCysValLeuValAspThrGlyArgProIleProGlyThrSerThrArgTyrGluGlnProLysCysAspAsnThrAlaArgAlaHisProAlaLysAlaArgAspLeuTyrLysGlyArgGlnLeuGlnGlyCysProGlyAlaLysLysHisGluPheLeuThrSerValLeuAspAlaLeuSerThrAspMetValHisAlaAlaSerAspProSerSerSerSerGlyArgLeuSerGluProAspProSerHisThrLeuGluGluArgValValHisTrpTyrPheLysLeuLeuAspLysAsnSerSerGlyAspIleGlyLysLysGluIleLysProPheLysArgPheLeuArgLysLysSerLysProLysLysCysValLysLysPheValGluTyrCysAspValAsnAsnAspLysSerIleSerValGlnGluLeuMetGlyCysLeuGlyValAlaLysGluAspGlyLysAlaAspThrLysLysArgHisThrProArgGlyHisAlaGluSerThrSerAsnArgGlnProArgLysGlnGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263155"
    },
    {
      "coordinates": [
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      "geneNCBI_id": 64094,
      "geneSymbol": "SMOC2",
      "hgvs": [
        "ENST00000356284.6:c.648T>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000348630.2:p.Cys216_Gly446delinsAspGlnGluHisGlnSerAlaLeuGluGluAlaLysGlnProLysAsnAspAsnValValIleProGluCysAlaHisGlyGlyLeuTyrLysProValGlnCysHisProSerThrGlyTyrCysTrpCysValLeuValAspThrGlyArgProIleProGlyThrSerThrArgTyrGluGlnProLysCysAspAsnThrAlaArgAlaHisProAlaLysAlaArgAspLeuTyrLysGlyArgGlnLeuGlnGlyCysProGlyAlaLysLysHisGluPheLeuThrSerValLeuAspAlaLeuSerThrAspMetValHisAlaAlaSerAspProSerSerSerSerGlyArgLeuSerGluProAspProSerHisThrLeuGluGluArgValValHisTrpTyrPheLysLeuLeuAspLysAsnSerSerGlyAspIleGlyLysLysGluIleLysProPheLysArgPheLeuArgLysLysSerLysProLysLysCysValLysLysPheValGluTyrCysAspValAsnAsnAspLysSerIleSerValGlnGluLeuMetGlyCysLeuGlyValAlaLysGluAspGlyLysAlaAspThrLysLysArgHisThrProArgGlyHisAlaGluSerThrSerAsnArgGlnProArgLysGlnGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263707"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826031743",
      "coordinates": [
        {
          "allele": "A",
          "end": 868,
          "referenceAllele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN020323",
      "geneNCBI_id": 64094,
      "geneSymbol": "SMOC2",
      "hgvs": [
        "NM_001166412.1:c.648T>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001159884.1:p.Cys216_Gly446delinsAspGlnGluHisGlnSerAlaLeuGluGluAlaLysGlnProLysAsnAspAsnValValIleProGluCysAlaHisGlyGlyLeuTyrLysProValGlnCysHisProSerThrGlyTyrCysTrpCysValLeuValAspThrGlyArgProIleProGlyThrSerThrArgTyrGluGlnProLysCysAspAsnThrAlaArgAlaHisProAlaLysAlaArgAspLeuTyrLysGlyArgGlnLeuGlnGlyCysProGlyAlaLysLysHisGluPheLeuThrSerValLeuAspAlaLeuSerThrAspMetValHisAlaAlaSerAspProSerSerSerSerGlyArgLeuSerGluProAspProSerHisThrLeuGluGluArgValValHisTrpTyrPheLysLeuLeuAspLysAsnSerSerGlyAspIleGlyLysLysGluIleLysProPheLysArgPheLeuArgLysLysSerLysProLysLysCysValLysLysPheValGluTyrCysAspValAsnAsnAspLysSerIleSerValGlnGluLeuMetGlyCysLeuGlyValAlaLysGluAspGlyLysAlaAspThrLysLysArgHisThrProArgGlyHisAlaGluSerThrSerAsnArgGlnProArgLysGlnGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014896"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397074",
      "coordinates": [
        {
          "allele": "A",
          "end": 901,
          "referenceAllele": "T",
          "start": 900
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      ],
      "gene": "http://reg.genome.network/gene/GN020323",
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      "geneSymbol": "SMOC2",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_071421.1:p.Cys227_Gly457delinsAspGlnGluHisGlnSerAlaLeuGluGluAlaLysGlnProLysAsnAspAsnValValIleProGluCysAlaHisGlyGlyLeuTyrLysProValGlnCysHisProSerThrGlyTyrCysTrpCysValLeuValAspThrGlyArgProIleProGlyThrSerThrArgTyrGluGlnProLysCysAspAsnThrAlaArgAlaHisProAlaLysAlaArgAspLeuTyrLysGlyArgGlnLeuGlnGlyCysProGlyAlaLysLysHisGluPheLeuThrSerValLeuAspAlaLeuSerThrAspMetValHisAlaAlaSerAspProSerSerSerSerGlyArgLeuSerGluProAspProSerHisThrLeuGluGluArgValValHisTrpTyrPheLysLeuLeuAspLysAsnSerSerGlyAspIleGlyLysLysGluIleLysProPheLysArgPheLeuArgLysLysSerLysProLysLysCysValLysLysPheValGluTyrCysAspValAsnAsnAspLysSerIleSerValGlnGluLeuMetGlyCysLeuGlyValAlaLysGluAspGlyLysAlaAspThrLysLysArgHisThrProArgGlyHisAlaGluSerThrSerAsnArgGlnProArgLysGlnGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN020323",
      "geneNCBI_id": 64094,
      "geneSymbol": "SMOC2",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011534367.1:p.Cys227Ter",
        "hgvsWellDefined": "XP_011534367.1:p.Cys227_Arg475delinsAspGlnGluHisGlnSerAlaLeuGluGluAlaLysGlnProLysAsnAspAsnValValIleProGluCysAlaHisGlyGlyLeuTyrLysProValGlnCysHisProSerThrGlyTyrCysTrpCysValLeuValAspThrGlyArgProIleProGlyThrSerThrArgTyrGluGlnProLysCysAspAsnThrAlaArgAlaHisProAlaLysAlaArgAspLeuTyrLysGlyArgGlnLeuGlnGlyCysProGlyAlaLysLysHisGluPheLeuThrSerValLeuAspAlaLeuSerThrAspMetValHisAlaAlaSerAspProSerSerSerSerGlyArgLeuSerGluProAspProSerHisThrLeuGluGluArgValValHisTrpTyrPheLysLeuLeuAspLysAsnSerSerGlyAspIleGlyLysLysGluIleLysProPheLysArgPheLeuArgLysLysSerLysProLysLysCysValLysLysPheValGluTyrCysAspValAsnAsnAspLysSerIleSerValGlnGluLeuMetGlyCysLeuGlyValAlaLysGluAspGlyLysAlaAspThrLysLysArgHisThrProArgGlyHisAlaGluSerThrSerAsnArgGlnAspAlaMetValValSerSerArgProLysAlaThrThrHisArgLysSerArgThrLeuSerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 866,
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      ],
      "gene": "http://reg.genome.network/gene/GN020323",
      "geneNCBI_id": 64094,
      "geneSymbol": "SMOC2",
      "hgvs": [
        "XM_011536066.1:c.648T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534368.1:p.Cys216Ter",
        "hgvsWellDefined": "XP_011534368.1:p.Cys216_Arg464delinsAspGlnGluHisGlnSerAlaLeuGluGluAlaLysGlnProLysAsnAspAsnValValIleProGluCysAlaHisGlyGlyLeuTyrLysProValGlnCysHisProSerThrGlyTyrCysTrpCysValLeuValAspThrGlyArgProIleProGlyThrSerThrArgTyrGluGlnProLysCysAspAsnThrAlaArgAlaHisProAlaLysAlaArgAspLeuTyrLysGlyArgGlnLeuGlnGlyCysProGlyAlaLysLysHisGluPheLeuThrSerValLeuAspAlaLeuSerThrAspMetValHisAlaAlaSerAspProSerSerSerSerGlyArgLeuSerGluProAspProSerHisThrLeuGluGluArgValValHisTrpTyrPheLysLeuLeuAspLysAsnSerSerGlyAspIleGlyLysLysGluIleLysProPheLysArgPheLeuArgLysLysSerLysProLysLysCysValLysLysPheValGluTyrCysAspValAsnAsnAspLysSerIleSerValGlnGluLeuMetGlyCysLeuGlyValAlaLysGluAspGlyLysAlaAspThrLysLysArgHisThrProArgGlyHisAlaGluSerThrSerAsnArgGlnAspAlaMetValValSerSerArgProLysAlaThrThrHisArgLysSerArgThrLeuSerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826031743",
      "coordinates": [
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          "end": 835,
          "referenceAllele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN020323",
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      "geneSymbol": "SMOC2",
      "hgvs": [
        "NM_001166412.2:c.648T>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001159884.1:p.Cys216_Gly446delinsAspGlnGluHisGlnSerAlaLeuGluGluAlaLysGlnProLysAsnAspAsnValValIleProGluCysAlaHisGlyGlyLeuTyrLysProValGlnCysHisProSerThrGlyTyrCysTrpCysValLeuValAspThrGlyArgProIleProGlyThrSerThrArgTyrGluGlnProLysCysAspAsnThrAlaArgAlaHisProAlaLysAlaArgAspLeuTyrLysGlyArgGlnLeuGlnGlyCysProGlyAlaLysLysHisGluPheLeuThrSerValLeuAspAlaLeuSerThrAspMetValHisAlaAlaSerAspProSerSerSerSerGlyArgLeuSerGluProAspProSerHisThrLeuGluGluArgValValHisTrpTyrPheLysLeuLeuAspLysAsnSerSerGlyAspIleGlyLysLysGluIleLysProPheLysArgPheLeuArgLysLysSerLysProLysLysCysValLysLysPheValGluTyrCysAspValAsnAsnAspLysSerIleSerValGlnGluLeuMetGlyCysLeuGlyValAlaLysGluAspGlyLysAlaAspThrLysLysArgHisThrProArgGlyHisAlaGluSerThrSerAsnArgGlnProArgLysGlnGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678499",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NM_001166412.2:c.648T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348630.3:p.Cys216Ter"
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          "RefSeq": {
            "hgvs": "NP_001159884.1:p.Cys216Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397074",
      "coordinates": [
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          "end": 868,
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      ],
      "gene": "http://reg.genome.network/gene/GN020323",
      "geneNCBI_id": 64094,
      "geneSymbol": "SMOC2",
      "hgvs": [
        "NM_022138.3:c.681T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071421.1:p.Cys227Ter",
        "hgvsWellDefined": "NP_071421.1:p.Cys227_Gly457delinsAspGlnGluHisGlnSerAlaLeuGluGluAlaLysGlnProLysAsnAspAsnValValIleProGluCysAlaHisGlyGlyLeuTyrLysProValGlnCysHisProSerThrGlyTyrCysTrpCysValLeuValAspThrGlyArgProIleProGlyThrSerThrArgTyrGluGlnProLysCysAspAsnThrAlaArgAlaHisProAlaLysAlaArgAspLeuTyrLysGlyArgGlnLeuGlnGlyCysProGlyAlaLysLysHisGluPheLeuThrSerValLeuAspAlaLeuSerThrAspMetValHisAlaAlaSerAspProSerSerSerSerGlyArgLeuSerGluProAspProSerHisThrLeuGluGluArgValValHisTrpTyrPheLysLeuLeuAspLysAsnSerSerGlyAspIleGlyLysLysGluIleLysProPheLysArgPheLeuArgLysLysSerLysProLysLysCysValLysLysPheValGluTyrCysAspValAsnAsnAspLysSerIleSerValGlnGluLeuMetGlyCysLeuGlyValAlaLysGluAspGlyLysAlaAspThrLysLysArgHisThrProArgGlyHisAlaGluSerThrSerAsnArgGlnProArgLysGlnGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698514"
    }
  ],
  "type": "nucleotide"
}