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  "communityStandardTitle": [
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      "geneNCBI_id": 1893,
      "geneSymbol": "ECM1",
      "hgvs": [
        "NM_022664.2:c.157C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_073155.2:p.Arg53Ter",
        "hgvsWellDefined": "NP_073155.2:p.Arg53_Glu415delinsSerLeuProMetAspHisProAspSerSerGlnHisGlyProProPheGluGlyGlnSerGlnValGlnProProProSerGlnGluAlaThrProLeuGlnGlnGluLysLeuLeuProAlaGlnLeuProAlaGluLysGluValGlyProProLeuProGlnGluAlaValProLeuGlnLysGluLeuProSerLeuGlnHisProAsnGluGlnLysGluGlyThrProAlaProPheGlyAspGlnSerHisProGluProGluSerTrpAsnAlaAlaGlnHisCysGlnGlnAspArgSerGlnGlyGlyTrpGlyHisArgLeuAspGlyPheProProGlyArgProSerProAspAsnLeuAsnGlnIleCysLeuProAsnArgGlnHisValValTyrGlyProTrpAsnLeuProGlnSerSerTyrSerHisLeuThrArgGlnGlyGluThrLeuAsnPheLeuGluIleGlyTyrSerArgCysCysHisCysArgSerHisThrAsnArgLeuGluCysAlaLysLeuValTrpGluAspThrLeuAspLysTyrCysAspArgGluTyrAlaValLysThrHisHisHisLeuCysCysArgHisProProSerProThrArgAspGluCysPheAlaArgArgAlaProTyrProAsnTyrAspArgAspIleLeuThrIleAspIleGlyArgValThrProAsnLeuMetGlyHisLeuCysGlyAsnGlnArgValLeuThrLysHisLysHisIleProGlyLeuIleHisAsnMetThrAlaArgCysCysAspLeuProPheProGluGlnAlaCysCysAlaGluGluGluLysLeuThrPheIleAsnAspLeuCysGlyProArgArgAsnIleTrpArgAspProAlaLeuCysCysTyrLeuSerProGlyAspGluGlnValAsnCysPheAsnIleAsnTyrLeuArgAsnValAlaLeuValSerGlyAspThrGluAsnAlaLysGlyGlnGlyGluGlnGlySerThrGlyGlyThrAsnIleSerSerThrSerGluProLysGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "endIntronDirection": "+",
          "endIntronOffset": 522,
          "referenceAllele": "G",
          "start": 652,
          "startIntronDirection": "+",
          "startIntronOffset": 521
        }
      ],
      "hgvs": [
        "XR_922130.1:n.652+522G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119192"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118818",
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003153",
      "geneNCBI_id": 1893,
      "geneSymbol": "ECM1",
      "hgvs": [
        "NM_004425.4:c.157C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004416.2:p.Arg53Ter",
        "hgvsWellDefined": "NP_004416.2:p.Arg53_Glu540delinsSerLeuProMetAspHisProAspSerSerGlnHisGlyProProPheGluGlyGlnSerGlnValGlnProProProSerGlnGluAlaThrProLeuGlnGlnGluLysLeuLeuProAlaGlnLeuProAlaGluLysGluValGlyProProLeuProGlnGluAlaValProLeuGlnLysGluLeuProSerLeuGlnHisProAsnGluGlnLysGluGlyThrProAlaProPheGlyAspGlnSerHisProGluProGluSerTrpAsnAlaAlaGlnHisCysGlnGlnAspArgSerGlnGlyGlyTrpGlyHisArgLeuAspGlyPheProProGlyArgProSerProAspAsnLeuAsnGlnIleCysLeuProAsnArgGlnHisValValTyrGlyProTrpAsnLeuProGlnSerSerTyrSerHisLeuThrArgGlnGlyGluThrLeuAsnPheLeuGluIleGlyTyrSerArgCysCysHisCysArgSerHisThrAsnArgLeuGluCysAlaLysLeuValTrpGluGluAlaMetSerArgPheCysGluAlaGluPheSerValLysThrArgProHisTrpCysCysThrArgGlnGlyGluAlaArgPheSerCysPheGlnGluGluAlaProGlnProHisTyrGlnLeuArgAlaCysProSerHisGlnProAspIleSerSerGlyLeuGluLeuProPheProProGlyValProThrLeuAspAsnIleLysAsnIleCysHisLeuArgArgPheArgSerValProArgAsnLeuProAlaThrAspProLeuGlnArgGluLeuLeuAlaLeuIleGlnLeuGluArgGluPheGlnArgCysCysArgGlnGlyAsnAsnHisThrCysThrTrpLysAlaTrpGluAspThrLeuAspLysTyrCysAspArgGluTyrAlaValLysThrHisHisHisLeuCysCysArgHisProProSerProThrArgAspGluCysPheAlaArgArgAlaProTyrProAsnTyrAspArgAspIleLeuThrIleAspIleGlyArgValThrProAsnLeuMetGlyHisLeuCysGlyAsnGlnArgValLeuThrLysHisLysHisIleProGlyLeuIleHisAsnMetThrAlaArgCysCysAspLeuProPheProGluGlnAlaCysCysAlaGluGluGluLysLeuThrPheIleAsnAspLeuCysGlyProArgArgAsnIleTrpArgAspProAlaLeuCysCysTyrLeuSerProGlyAspGluGlnValAsnCysPheAsnIleAsnTyrLeuArgAsnValAlaLeuValSerGlyAspThrGluAsnAlaLysGlyGlnGlyGluGlnGlySerThrGlyGlyThrAsnIleSerSerThrSerGluProLysGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369047.9:c.157C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004425.4:c.157C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358043.4:p.Arg53Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004416.2:p.Arg53Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826263312",
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003153",
      "geneNCBI_id": 1893,
      "geneSymbol": "ECM1",
      "hgvs": [
        "NM_001202858.2:c.157C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189787.1:p.Arg53Ter",
        "hgvsWellDefined": "NP_001189787.1:p.Arg53_Glu567delinsSerLeuProMetAspHisProAspSerSerGlnHisGlyProProPheGluGlyGlnSerGlyLysGluGlyArgGlyProArgProHisSerGlnProTrpLeuGlyGluArgValGlyCysSerHisIleProProSerIleValGlnProProProSerGlnGluAlaThrProLeuGlnGlnGluLysLeuLeuProAlaGlnLeuProAlaGluLysGluValGlyProProLeuProGlnGluAlaValProLeuGlnLysGluLeuProSerLeuGlnHisProAsnGluGlnLysGluGlyThrProAlaProPheGlyAspGlnSerHisProGluProGluSerTrpAsnAlaAlaGlnHisCysGlnGlnAspArgSerGlnGlyGlyTrpGlyHisArgLeuAspGlyPheProProGlyArgProSerProAspAsnLeuAsnGlnIleCysLeuProAsnArgGlnHisValValTyrGlyProTrpAsnLeuProGlnSerSerTyrSerHisLeuThrArgGlnGlyGluThrLeuAsnPheLeuGluIleGlyTyrSerArgCysCysHisCysArgSerHisThrAsnArgLeuGluCysAlaLysLeuValTrpGluGluAlaMetSerArgPheCysGluAlaGluPheSerValLysThrArgProHisTrpCysCysThrArgGlnGlyGluAlaArgPheSerCysPheGlnGluGluAlaProGlnProHisTyrGlnLeuArgAlaCysProSerHisGlnProAspIleSerSerGlyLeuGluLeuProPheProProGlyValProThrLeuAspAsnIleLysAsnIleCysHisLeuArgArgPheArgSerValProArgAsnLeuProAlaThrAspProLeuGlnArgGluLeuLeuAlaLeuIleGlnLeuGluArgGluPheGlnArgCysCysArgGlnGlyAsnAsnHisThrCysThrTrpLysAlaTrpGluAspThrLeuAspLysTyrCysAspArgGluTyrAlaValLysThrHisHisHisLeuCysCysArgHisProProSerProThrArgAspGluCysPheAlaArgArgAlaProTyrProAsnTyrAspArgAspIleLeuThrIleAspIleGlyArgValThrProAsnLeuMetGlyHisLeuCysGlyAsnGlnArgValLeuThrLysHisLysHisIleProGlyLeuIleHisAsnMetThrAlaArgCysCysAspLeuProPheProGluGlnAlaCysCysAlaGluGluGluLysLeuThrPheIleAsnAspLeuCysGlyProArgArgAsnIleTrpArgAspProAlaLeuCysCysTyrLeuSerProGlyAspGluGlnValAsnCysPheAsnIleAsnTyrLeuArgAsnValAlaLeuValSerGlyAspThrGluAsnAlaLysGlyGlnGlyGluGlnGlySerThrGlyGlyThrAsnIleSerSerThrSerGluProLysGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679730"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068336",
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003153",
      "geneNCBI_id": 1893,
      "geneSymbol": "ECM1",
      "hgvs": [
        "NM_022664.3:c.157C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_073155.2:p.Arg53Ter",
        "hgvsWellDefined": "NP_073155.2:p.Arg53_Glu415delinsSerLeuProMetAspHisProAspSerSerGlnHisGlyProProPheGluGlyGlnSerGlnValGlnProProProSerGlnGluAlaThrProLeuGlnGlnGluLysLeuLeuProAlaGlnLeuProAlaGluLysGluValGlyProProLeuProGlnGluAlaValProLeuGlnLysGluLeuProSerLeuGlnHisProAsnGluGlnLysGluGlyThrProAlaProPheGlyAspGlnSerHisProGluProGluSerTrpAsnAlaAlaGlnHisCysGlnGlnAspArgSerGlnGlyGlyTrpGlyHisArgLeuAspGlyPheProProGlyArgProSerProAspAsnLeuAsnGlnIleCysLeuProAsnArgGlnHisValValTyrGlyProTrpAsnLeuProGlnSerSerTyrSerHisLeuThrArgGlnGlyGluThrLeuAsnPheLeuGluIleGlyTyrSerArgCysCysHisCysArgSerHisThrAsnArgLeuGluCysAlaLysLeuValTrpGluAspThrLeuAspLysTyrCysAspArgGluTyrAlaValLysThrHisHisHisLeuCysCysArgHisProProSerProThrArgAspGluCysPheAlaArgArgAlaProTyrProAsnTyrAspArgAspIleLeuThrIleAspIleGlyArgValThrProAsnLeuMetGlyHisLeuCysGlyAsnGlnArgValLeuThrLysHisLysHisIleProGlyLeuIleHisAsnMetThrAlaArgCysCysAspLeuProPheProGluGlnAlaCysCysAlaGluGluGluLysLeuThrPheIleAsnAspLeuCysGlyProArgArgAsnIleTrpArgAspProAlaLeuCysCysTyrLeuSerProGlyAspGluGlnValAsnCysPheAsnIleAsnTyrLeuArgAsnValAlaLeuValSerGlyAspThrGluAsnAlaLysGlyGlnGlyGluGlnGlySerThrGlyGlyThrAsnIleSerSerThrSerGluProLysGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698569"
    }
  ],
  "type": "nucleotide"
}