{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA143699",
  "communityStandardTitle": [
    "NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59368[alleleid]",
        "alleleId": 59368,
        "preferredName": "NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50208",
        "RCV": [
          "RCV000043470",
          "RCV000321927",
          "RCV001814028"
        ],
        "variationId": 50208
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-61560533-C-T",
        "id": "17-61560533-C-T",
        "variant": "17:61560533 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.61560533C>T?assembly=hg19",
        "id": "chr17:g.61560533C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.63483172C>T?assembly=hg38",
        "id": "chr17:g.63483172C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514688",
        "rs": 397514688
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-61560533-C-T?dataset=gnomad_r2_1",
        "id": "17-61560533-C-T",
        "variant": "17:61560533 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-63483172-C-T?dataset=gnomad_r3",
        "id": "17-63483172-C-T",
        "variant": "17:63483172 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-63483172-C-T?dataset=gnomad_r4",
        "id": "17-63483172-C-T",
        "variant": "17:63483172 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 63483172,
          "referenceAllele": "C",
          "start": 63483171
        }
      ],
      "hgvs": [
        "NC_000017.11:g.63483172C>T",
        "CM000679.2:g.63483172C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 61560533,
          "referenceAllele": "C",
          "start": 61560532
        }
      ],
      "hgvs": [
        "NC_000017.10:g.61560533C>T",
        "CM000679.1:g.61560533C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 58914265,
          "referenceAllele": "C",
          "start": 58914264
        }
      ],
      "hgvs": [
        "NC_000017.9:g.58914265C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11100,
          "referenceAllele": "C",
          "start": 11099
        }
      ],
      "hgvs": [
        "NG_011648.1:g.11100C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.10:c.1486C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:p.Arg496Ter",
        "hgvsWellDefined": "ENSP00000290866.4:p.Arg496_Ser1306delinsThrLysTyrGlnGlyIleCysProProValThrArgAsnGluThrHisPheAspAlaGlyAlaLysPheHisValProAsnValThrProTyrIleArgTyrPheValSerPheValLeuGlnPheGlnPheHisGluAlaLeuCysLysGluAlaGlyTyrGluGlyProLeuHisGlnCysAspIleTyrArgSerThrLysAlaGlyAlaLysLeuArgLysValLeuGlnAlaGlySerSerArgProTrpGlnGluValLeuLysAspMetValGlyLeuAspAlaLeuAspAlaGlnProLeuLeuLysTyrPheGlnProValThrGlnTrpLeuGlnGluGlnAsnGlnGlnAsnGlyGluValLeuGlyTrpProGluTyrGlnTrpHisProProLeuProAspAsnTyrProGluGlyIleAspLeuValThrAspGluAlaGluAlaSerLysPheValGluGluTyrAspArgThrSerGlnValValTrpAsnGluTyrAlaGluAlaAsnTrpAsnTyrAsnThrAsnIleThrThrGluThrSerLysIleLeuLeuGlnLysAsnMetGlnIleAlaAsnHisThrLeuLysTyrGlyThrGlnAlaArgLysPheAspValAsnGlnLeuGlnAsnThrThrIleLysArgIleIleLysLysValGlnAspLeuGluArgAlaAlaLeuProAlaGlnGluLeuGluGluTyrAsnLysIleLeuLeuAspMetGluThrThrTyrSerValAlaThrValCysHisProAsnGlySerCysLeuGlnLeuGluProAspLeuThrAsnValMetAlaThrSerArgLysTyrGluAspLeuLeuTrpAlaTrpGluGlyTrpArgAspLysAlaGlyArgAlaIleLeuGlnPheTyrProLysTyrValGluLeuIleAsnGlnAlaAlaArgLeuAsnGlyTyrValAspAlaGlyAspSerTrpArgSerMetTyrGluThrProSerLeuGluGlnAspLeuGluArgLeuPheGlnGluLeuGlnProLeuTyrLeuAsnLeuHisAlaTyrValArgArgAlaLeuHisArgHisTyrGlyAlaGlnHisIleAsnLeuGluGlyProIleProAlaHisLeuLeuGlyAsnMetTrpAlaGlnThrTrpSerAsnIleTyrAspLeuValValProPheProSerAlaProSerMetAspThrThrGluAlaMetLeuLysGlnGlyTrpThrProArgArgMetPheLysGluAlaAspAspPhePheThrSerLeuGlyLeuLeuProValProProGluPheTrpAsnLysSerMetLeuGluLysProThrAspGlyArgGluValValCysHisAlaSerAlaTrpAspPheTyrAsnGlyLysAspPheArgIleLysGlnCysThrThrValAsnLeuGluAspLeuValValAlaHisHisGluMetGlyHisIleGlnTyrPheMetGlnTyrLysAspLeuProValAlaLeuArgGluGlyAlaAsnProGlyPheHisGluAlaIleGlyAspValLeuAlaLeuSerValSerThrProLysHisLeuHisSerLeuAsnLeuLeuSerSerGluGlyGlySerAspGluHisAspIleAsnPheLeuMetLysMetAlaLeuAspLysIleAlaPheIleProPheSerTyrLeuValAspGlnTrpArgTrpArgValPheAspGlySerIleThrLysGluAsnTyrAsnGlnGluTrpTrpSerLeuArgLeuLysTyrGlnGlyLeuCysProProValProArgThrGlnGlyAspPheAspProGlyAlaLysPheHisIleProSerSerValProTyrIleArgTyrPheValSerPheIleIleGlnPheGlnPheHisGluAlaLeuCysGlnAlaAlaGlyHisThrGlyProLeuHisLysCysAspIleTyrGlnSerLysGluAlaGlyGlnArgLeuAlaThrAlaMetLysLeuGlyPheSerArgProTrpProGluAlaMetGlnLeuIleThrGlyGlnProAsnMetSerAlaSerAlaMetLeuSerTyrPheLysProLeuLeuAspTrpLeuArgThrGluAsnGluLeuHisGlyGluLysLeuGlyTrpProGlnTyrAsnTrpThrProAsnSerAlaArgSerGluGlyProLeuProAspSerGlyArgValSerPheLeuGlyLeuAspLeuAspAlaGlnGlnAlaArgValGlyGlnTrpLeuLeuLeuPheLeuGlyIleAlaLeuLeuValAlaThrLeuGlyLeuSerGlnArgLeuPheSerIleArgHisArgSerLeuHisArgHisSerHisGlyProGlnPheGlySerGluValGluLeuArgHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744043",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.1486C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.1486C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:p.Arg496Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:p.Arg496Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.9:c.1486C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:p.Arg496Ter",
        "hgvsWellDefined": "ENSP00000290866.4:p.Arg496_Ser1306delinsThrLysTyrGlnGlyIleCysProProValThrArgAsnGluThrHisPheAspAlaGlyAlaLysPheHisValProAsnValThrProTyrIleArgTyrPheValSerPheValLeuGlnPheGlnPheHisGluAlaLeuCysLysGluAlaGlyTyrGluGlyProLeuHisGlnCysAspIleTyrArgSerThrLysAlaGlyAlaLysLeuArgLysValLeuGlnAlaGlySerSerArgProTrpGlnGluValLeuLysAspMetValGlyLeuAspAlaLeuAspAlaGlnProLeuLeuLysTyrPheGlnProValThrGlnTrpLeuGlnGluGlnAsnGlnGlnAsnGlyGluValLeuGlyTrpProGluTyrGlnTrpHisProProLeuProAspAsnTyrProGluGlyIleAspLeuValThrAspGluAlaGluAlaSerLysPheValGluGluTyrAspArgThrSerGlnValValTrpAsnGluTyrAlaGluAlaAsnTrpAsnTyrAsnThrAsnIleThrThrGluThrSerLysIleLeuLeuGlnLysAsnMetGlnIleAlaAsnHisThrLeuLysTyrGlyThrGlnAlaArgLysPheAspValAsnGlnLeuGlnAsnThrThrIleLysArgIleIleLysLysValGlnAspLeuGluArgAlaAlaLeuProAlaGlnGluLeuGluGluTyrAsnLysIleLeuLeuAspMetGluThrThrTyrSerValAlaThrValCysHisProAsnGlySerCysLeuGlnLeuGluProAspLeuThrAsnValMetAlaThrSerArgLysTyrGluAspLeuLeuTrpAlaTrpGluGlyTrpArgAspLysAlaGlyArgAlaIleLeuGlnPheTyrProLysTyrValGluLeuIleAsnGlnAlaAlaArgLeuAsnGlyTyrValAspAlaGlyAspSerTrpArgSerMetTyrGluThrProSerLeuGluGlnAspLeuGluArgLeuPheGlnGluLeuGlnProLeuTyrLeuAsnLeuHisAlaTyrValArgArgAlaLeuHisArgHisTyrGlyAlaGlnHisIleAsnLeuGluGlyProIleProAlaHisLeuLeuGlyAsnMetTrpAlaGlnThrTrpSerAsnIleTyrAspLeuValValProPheProSerAlaProSerMetAspThrThrGluAlaMetLeuLysGlnGlyTrpThrProArgArgMetPheLysGluAlaAspAspPhePheThrSerLeuGlyLeuLeuProValProProGluPheTrpAsnLysSerMetLeuGluLysProThrAspGlyArgGluValValCysHisAlaSerAlaTrpAspPheTyrAsnGlyLysAspPheArgIleLysGlnCysThrThrValAsnLeuGluAspLeuValValAlaHisHisGluMetGlyHisIleGlnTyrPheMetGlnTyrLysAspLeuProValAlaLeuArgGluGlyAlaAsnProGlyPheHisGluAlaIleGlyAspValLeuAlaLeuSerValSerThrProLysHisLeuHisSerLeuAsnLeuLeuSerSerGluGlyGlySerAspGluHisAspIleAsnPheLeuMetLysMetAlaLeuAspLysIleAlaPheIleProPheSerTyrLeuValAspGlnTrpArgTrpArgValPheAspGlySerIleThrLysGluAsnTyrAsnGlnGluTrpTrpSerLeuArgLeuLysTyrGlnGlyLeuCysProProValProArgThrGlnGlyAspPheAspProGlyAlaLysPheHisIleProSerSerValProTyrIleArgTyrPheValSerPheIleIleGlnPheGlnPheHisGluAlaLeuCysGlnAlaAlaGlyHisThrGlyProLeuHisLysCysAspIleTyrGlnSerLysGluAlaGlyGlnArgLeuAlaThrAlaMetLysLeuGlyPheSerArgProTrpProGluAlaMetGlnLeuIleThrGlyGlnProAsnMetSerAlaSerAlaMetLeuSerTyrPheLysProLeuLeuAspTrpLeuArgThrGluAsnGluLeuHisGlyGluLysLeuGlyTrpProGlnTyrAsnTrpThrProAsnSerAlaArgSerGluGlyProLeuProAspSerGlyArgValSerPheLeuGlyLeuAspLeuAspAlaGlnGlnAlaArgValGlyGlnTrpLeuLeuLeuPheLeuGlyIleAlaLeuLeuValAlaThrLeuGlyLeuSerGlnArgLeuPheSerIleArgHisArgSerLeuHisArgHisSerHisGlyProGlnPheGlySerGluValGluLeuArgHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000428043.5:c.1486C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397593.2:p.Arg496Ter",
        "hgvsWellDefined": "ENSP00000397593.2:p.Arg496_Ser1242delinsThrLysTyrGlnGlyIleCysProProValThrArgAsnGluThrHisPheAspAlaGlyAlaLysPheHisValProAsnValThrProTyrIleArgTyrPheValSerPheValLeuGlnPheGlnPheHisGluAlaLeuCysLysGluAlaGlyTyrGluGlyProLeuHisGlnCysAspIleTyrArgSerThrLysAlaGlyAlaLysLeuArgLysValLeuGlnAlaGlySerSerArgProTrpGlnGluValLeuLysAspMetValGlyLeuAspAlaLeuAspAlaGlnProLeuLeuLysTyrPheGlnProValThrGlnTrpLeuGlnGluGlnAsnGlnGlnAsnGlyGluValLeuGlyTrpProGluTyrGlnTrpHisProProLeuProAspAsnTyrProGluGlyIleAspLeuValThrAspGluAlaGluAlaSerLysPheValGluGluTyrAspArgThrSerGlnValValTrpAsnGluTyrAlaGluAlaAsnTrpAsnTyrAsnThrAsnIleThrThrGluThrSerLysIleLeuLeuGlnLysAsnMetGlnIleAlaAsnHisThrLeuLysTyrGlyThrGlnAlaArgLysPheAspValAsnGlnLeuGlnAsnThrThrIleLysArgIleIleLysLysValGlnAspLeuGluArgAlaAlaLeuProAlaGlnGluLeuGluGluTyrAsnLysIleLeuLeuAspMetGluThrThrTyrSerValAlaThrValCysHisProAsnGlySerCysLeuGlnLeuGluProAspLeuThrAsnValMetAlaThrSerArgLysTyrGluAspLeuLeuTrpAlaTrpGluGlyTrpArgAspLysAlaGlyArgAlaIleLeuGlnPheTyrProLysTyrValGluLeuIleAsnGlnAlaAlaArgLeuAsnGlyTyrValAspAlaGlyAspSerTrpArgSerMetTyrGluThrProSerLeuGluGlnAspLeuGluArgLeuPheGlnGluLeuGlnProLeuTyrLeuAsnLeuHisAlaTyrValArgArgAlaLeuHisArgHisTyrGlyAlaGlnHisIleAsnLeuGluGlyProIleProAlaHisLeuLeuGlyAsnMetTrpAlaGlnThrTrpSerAsnIleTyrAspLeuValValProPheProSerAlaProSerMetAspThrThrGluAlaMetLeuLysGlnGlyTrpThrProArgArgMetPheLysGluAlaAspAspPhePheThrSerLeuGlyLeuLeuProValProProGluPheTrpAsnLysSerMetLeuGluLysProThrAspGlyArgGluValValCysHisAlaSerAlaTrpAspPheTyrAsnGlyLysAspPheArgIleLysGlnCysThrThrValAsnLeuGluAspLeuValValAlaHisHisGluMetGlyHisIleGlnTyrPheMetGlnTyrLysAspLeuProValAlaLeuArgGluGlyAlaAsnProGlyPheHisGluAlaIleGlyAspValLeuAlaLeuSerValSerThrProLysHisLeuHisSerLeuAsnLeuLeuSerSerGluGlyGlySerAspGluHisAspIleAsnPheLeuMetLysMetAlaLeuAspLysIleAlaPheIleProPheSerTyrLeuValAspGlnTrpArgTrpArgValPheAspGlySerIleThrLysGluAsnTyrAsnGlnGluTrpTrpSerLeuArgLeuLysTyrGlnGlyLeuCysProProValProArgThrGlnGlyAspPheAspProGlyAlaLysPheHisIleProSerSerValProTyrIleArgTyrPheValSerPheIleIleGlnPheGlnPheHisGluAlaLeuCysGlnAlaAlaGlyHisThrGlyProLeuHisLysCysAspIleTyrGlnSerLysGluAlaGlyGlnArgLeuAlaThrAlaMetLysLeuGlyPheSerArgProTrpProGluAlaMetGlnLeuIleThrGlyGlnProAsnMetSerAlaSerAlaMetLeuSerTyrPheLysProLeuLeuAspTrpLeuArgThrGluAsnGluLeuHisGlyGluLysLeuGlyTrpProGlnTyrAsnTrpThrProAsnSerGlyThrAlaThrHisProThrSerSerLeuGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000582678.5:c.*885C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462995.1:n.*885C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1376,
          "endIntronDirection": "-",
          "endIntronOffset": 287,
          "referenceAllele": "C",
          "start": 1376,
          "startIntronDirection": "-",
          "startIntronOffset": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000584529.5:n.1377-288C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA143700",
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.3:c.1486C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:p.Arg496Ter",
        "hgvsWellDefined": "NP_000780.1:p.Arg496_Ser1306delinsThrLysTyrGlnGlyIleCysProProValThrArgAsnGluThrHisPheAspAlaGlyAlaLysPheHisValProAsnValThrProTyrIleArgTyrPheValSerPheValLeuGlnPheGlnPheHisGluAlaLeuCysLysGluAlaGlyTyrGluGlyProLeuHisGlnCysAspIleTyrArgSerThrLysAlaGlyAlaLysLeuArgLysValLeuGlnAlaGlySerSerArgProTrpGlnGluValLeuLysAspMetValGlyLeuAspAlaLeuAspAlaGlnProLeuLeuLysTyrPheGlnProValThrGlnTrpLeuGlnGluGlnAsnGlnGlnAsnGlyGluValLeuGlyTrpProGluTyrGlnTrpHisProProLeuProAspAsnTyrProGluGlyIleAspLeuValThrAspGluAlaGluAlaSerLysPheValGluGluTyrAspArgThrSerGlnValValTrpAsnGluTyrAlaGluAlaAsnTrpAsnTyrAsnThrAsnIleThrThrGluThrSerLysIleLeuLeuGlnLysAsnMetGlnIleAlaAsnHisThrLeuLysTyrGlyThrGlnAlaArgLysPheAspValAsnGlnLeuGlnAsnThrThrIleLysArgIleIleLysLysValGlnAspLeuGluArgAlaAlaLeuProAlaGlnGluLeuGluGluTyrAsnLysIleLeuLeuAspMetGluThrThrTyrSerValAlaThrValCysHisProAsnGlySerCysLeuGlnLeuGluProAspLeuThrAsnValMetAlaThrSerArgLysTyrGluAspLeuLeuTrpAlaTrpGluGlyTrpArgAspLysAlaGlyArgAlaIleLeuGlnPheTyrProLysTyrValGluLeuIleAsnGlnAlaAlaArgLeuAsnGlyTyrValAspAlaGlyAspSerTrpArgSerMetTyrGluThrProSerLeuGluGlnAspLeuGluArgLeuPheGlnGluLeuGlnProLeuTyrLeuAsnLeuHisAlaTyrValArgArgAlaLeuHisArgHisTyrGlyAlaGlnHisIleAsnLeuGluGlyProIleProAlaHisLeuLeuGlyAsnMetTrpAlaGlnThrTrpSerAsnIleTyrAspLeuValValProPheProSerAlaProSerMetAspThrThrGluAlaMetLeuLysGlnGlyTrpThrProArgArgMetPheLysGluAlaAspAspPhePheThrSerLeuGlyLeuLeuProValProProGluPheTrpAsnLysSerMetLeuGluLysProThrAspGlyArgGluValValCysHisAlaSerAlaTrpAspPheTyrAsnGlyLysAspPheArgIleLysGlnCysThrThrValAsnLeuGluAspLeuValValAlaHisHisGluMetGlyHisIleGlnTyrPheMetGlnTyrLysAspLeuProValAlaLeuArgGluGlyAlaAsnProGlyPheHisGluAlaIleGlyAspValLeuAlaLeuSerValSerThrProLysHisLeuHisSerLeuAsnLeuLeuSerSerGluGlyGlySerAspGluHisAspIleAsnPheLeuMetLysMetAlaLeuAspLysIleAlaPheIleProPheSerTyrLeuValAspGlnTrpArgTrpArgValPheAspGlySerIleThrLysGluAsnTyrAsnGlnGluTrpTrpSerLeuArgLeuLysTyrGlnGlyLeuCysProProValProArgThrGlnGlyAspPheAspProGlyAlaLysPheHisIleProSerSerValProTyrIleArgTyrPheValSerPheIleIleGlnPheGlnPheHisGluAlaLeuCysGlnAlaAlaGlyHisThrGlyProLeuHisLysCysAspIleTyrGlnSerLysGluAlaGlyGlnArgLeuAlaThrAlaMetLysLeuGlyPheSerArgProTrpProGluAlaMetGlnLeuIleThrGlyGlnProAsnMetSerAlaSerAlaMetLeuSerTyrPheLysProLeuLeuAspTrpLeuArgThrGluAsnGluLeuHisGlyGluLysLeuGlyTrpProGlnTyrAsnTrpThrProAsnSerAlaArgSerGluGlyProLeuProAspSerGlyArgValSerPheLeuGlyLeuAspLeuAspAlaGlnGlnAlaArgValGlyGlnTrpLeuLeuLeuPheLeuGlyIleAlaLeuLeuValAlaThrLeuGlyLeuSerGlnArgLeuPheSerIleArgHisArgSerLeuHisArgHisSerHisGlyProGlnPheGlySerGluValGluLeuArgHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_005257110.1:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257167.1:p.Arg313Ter",
        "hgvsWellDefined": "XP_005257167.1:p.Arg313_Ser1123delinsThrLysTyrGlnGlyIleCysProProValThrArgAsnGluThrHisPheAspAlaGlyAlaLysPheHisValProAsnValThrProTyrIleArgTyrPheValSerPheValLeuGlnPheGlnPheHisGluAlaLeuCysLysGluAlaGlyTyrGluGlyProLeuHisGlnCysAspIleTyrArgSerThrLysAlaGlyAlaLysLeuArgLysValLeuGlnAlaGlySerSerArgProTrpGlnGluValLeuLysAspMetValGlyLeuAspAlaLeuAspAlaGlnProLeuLeuLysTyrPheGlnProValThrGlnTrpLeuGlnGluGlnAsnGlnGlnAsnGlyGluValLeuGlyTrpProGluTyrGlnTrpHisProProLeuProAspAsnTyrProGluGlyIleAspLeuValThrAspGluAlaGluAlaSerLysPheValGluGluTyrAspArgThrSerGlnValValTrpAsnGluTyrAlaGluAlaAsnTrpAsnTyrAsnThrAsnIleThrThrGluThrSerLysIleLeuLeuGlnLysAsnMetGlnIleAlaAsnHisThrLeuLysTyrGlyThrGlnAlaArgLysPheAspValAsnGlnLeuGlnAsnThrThrIleLysArgIleIleLysLysValGlnAspLeuGluArgAlaAlaLeuProAlaGlnGluLeuGluGluTyrAsnLysIleLeuLeuAspMetGluThrThrTyrSerValAlaThrValCysHisProAsnGlySerCysLeuGlnLeuGluProAspLeuThrAsnValMetAlaThrSerArgLysTyrGluAspLeuLeuTrpAlaTrpGluGlyTrpArgAspLysAlaGlyArgAlaIleLeuGlnPheTyrProLysTyrValGluLeuIleAsnGlnAlaAlaArgLeuAsnGlyTyrValAspAlaGlyAspSerTrpArgSerMetTyrGluThrProSerLeuGluGlnAspLeuGluArgLeuPheGlnGluLeuGlnProLeuTyrLeuAsnLeuHisAlaTyrValArgArgAlaLeuHisArgHisTyrGlyAlaGlnHisIleAsnLeuGluGlyProIleProAlaHisLeuLeuGlyAsnMetTrpAlaGlnThrTrpSerAsnIleTyrAspLeuValValProPheProSerAlaProSerMetAspThrThrGluAlaMetLeuLysGlnGlyTrpThrProArgArgMetPheLysGluAlaAspAspPhePheThrSerLeuGlyLeuLeuProValProProGluPheTrpAsnLysSerMetLeuGluLysProThrAspGlyArgGluValValCysHisAlaSerAlaTrpAspPheTyrAsnGlyLysAspPheArgIleLysGlnCysThrThrValAsnLeuGluAspLeuValValAlaHisHisGluMetGlyHisIleGlnTyrPheMetGlnTyrLysAspLeuProValAlaLeuArgGluGlyAlaAsnProGlyPheHisGluAlaIleGlyAspValLeuAlaLeuSerValSerThrProLysHisLeuHisSerLeuAsnLeuLeuSerSerGluGlyGlySerAspGluHisAspIleAsnPheLeuMetLysMetAlaLeuAspLysIleAlaPheIleProPheSerTyrLeuValAspGlnTrpArgTrpArgValPheAspGlySerIleThrLysGluAsnTyrAsnGlnGluTrpTrpSerLeuArgLeuLysTyrGlnGlyLeuCysProProValProArgThrGlnGlyAspPheAspProGlyAlaLysPheHisIleProSerSerValProTyrIleArgTyrPheValSerPheIleIleGlnPheGlnPheHisGluAlaLeuCysGlnAlaAlaGlyHisThrGlyProLeuHisLysCysAspIleTyrGlnSerLysGluAlaGlyGlnArgLeuAlaThrAlaMetLysLeuGlyPheSerArgProTrpProGluAlaMetGlnLeuIleThrGlyGlnProAsnMetSerAlaSerAlaMetLeuSerTyrPheLysProLeuLeuAspTrpLeuArgThrGluAsnGluLeuHisGlyGluLysLeuGlyTrpProGlnTyrAsnTrpThrProAsnSerAlaArgSerGluGlyProLeuProAspSerGlyArgValSerPheLeuGlyLeuAspLeuAspAlaGlnGlnAlaArgValGlyGlnTrpLeuLeuLeuPheLeuGlyIleAlaLeuLeuValAlaThrLeuGlyLeuSerGlnArgLeuPheSerIleArgHisArgSerLeuHisArgHisSerHisGlyProGlnPheGlySerGluValGluLeuArgHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA143700",
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.4:c.1486C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:p.Arg496Ter",
        "hgvsWellDefined": "NP_000780.1:p.Arg496_Ser1306delinsThrLysTyrGlnGlyIleCysProProValThrArgAsnGluThrHisPheAspAlaGlyAlaLysPheHisValProAsnValThrProTyrIleArgTyrPheValSerPheValLeuGlnPheGlnPheHisGluAlaLeuCysLysGluAlaGlyTyrGluGlyProLeuHisGlnCysAspIleTyrArgSerThrLysAlaGlyAlaLysLeuArgLysValLeuGlnAlaGlySerSerArgProTrpGlnGluValLeuLysAspMetValGlyLeuAspAlaLeuAspAlaGlnProLeuLeuLysTyrPheGlnProValThrGlnTrpLeuGlnGluGlnAsnGlnGlnAsnGlyGluValLeuGlyTrpProGluTyrGlnTrpHisProProLeuProAspAsnTyrProGluGlyIleAspLeuValThrAspGluAlaGluAlaSerLysPheValGluGluTyrAspArgThrSerGlnValValTrpAsnGluTyrAlaGluAlaAsnTrpAsnTyrAsnThrAsnIleThrThrGluThrSerLysIleLeuLeuGlnLysAsnMetGlnIleAlaAsnHisThrLeuLysTyrGlyThrGlnAlaArgLysPheAspValAsnGlnLeuGlnAsnThrThrIleLysArgIleIleLysLysValGlnAspLeuGluArgAlaAlaLeuProAlaGlnGluLeuGluGluTyrAsnLysIleLeuLeuAspMetGluThrThrTyrSerValAlaThrValCysHisProAsnGlySerCysLeuGlnLeuGluProAspLeuThrAsnValMetAlaThrSerArgLysTyrGluAspLeuLeuTrpAlaTrpGluGlyTrpArgAspLysAlaGlyArgAlaIleLeuGlnPheTyrProLysTyrValGluLeuIleAsnGlnAlaAlaArgLeuAsnGlyTyrValAspAlaGlyAspSerTrpArgSerMetTyrGluThrProSerLeuGluGlnAspLeuGluArgLeuPheGlnGluLeuGlnProLeuTyrLeuAsnLeuHisAlaTyrValArgArgAlaLeuHisArgHisTyrGlyAlaGlnHisIleAsnLeuGluGlyProIleProAlaHisLeuLeuGlyAsnMetTrpAlaGlnThrTrpSerAsnIleTyrAspLeuValValProPheProSerAlaProSerMetAspThrThrGluAlaMetLeuLysGlnGlyTrpThrProArgArgMetPheLysGluAlaAspAspPhePheThrSerLeuGlyLeuLeuProValProProGluPheTrpAsnLysSerMetLeuGluLysProThrAspGlyArgGluValValCysHisAlaSerAlaTrpAspPheTyrAsnGlyLysAspPheArgIleLysGlnCysThrThrValAsnLeuGluAspLeuValValAlaHisHisGluMetGlyHisIleGlnTyrPheMetGlnTyrLysAspLeuProValAlaLeuArgGluGlyAlaAsnProGlyPheHisGluAlaIleGlyAspValLeuAlaLeuSerValSerThrProLysHisLeuHisSerLeuAsnLeuLeuSerSerGluGlyGlySerAspGluHisAspIleAsnPheLeuMetLysMetAlaLeuAspLysIleAlaPheIleProPheSerTyrLeuValAspGlnTrpArgTrpArgValPheAspGlySerIleThrLysGluAsnTyrAsnGlnGluTrpTrpSerLeuArgLeuLysTyrGlnGlyLeuCysProProValProArgThrGlnGlyAspPheAspProGlyAlaLysPheHisIleProSerSerValProTyrIleArgTyrPheValSerPheIleIleGlnPheGlnPheHisGluAlaLeuCysGlnAlaAlaGlyHisThrGlyProLeuHisLysCysAspIleTyrGlnSerLysGluAlaGlyGlnArgLeuAlaThrAlaMetLysLeuGlyPheSerArgProTrpProGluAlaMetGlnLeuIleThrGlyGlnProAsnMetSerAlaSerAlaMetLeuSerTyrPheLysProLeuLeuAspTrpLeuArgThrGluAsnGluLeuHisGlyGluLysLeuGlyTrpProGlnTyrAsnTrpThrProAsnSerAlaArgSerGluGlyProLeuProAspSerGlyArgValSerPheLeuGlyLeuAspLeuAspAlaGlnGlnAlaArgValGlyGlnTrpLeuLeuLeuPheLeuGlyIleAlaLeuLeuValAlaThrLeuGlyLeuSerGlnArgLeuPheSerIleArgHisArgSerLeuHisArgHisSerHisGlyProGlnPheGlySerGluValGluLeuArgHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.1486C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.1486C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:p.Arg496Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:p.Arg496Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1188,
          "referenceAllele": "C",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382700.1:c.919C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369629.1:p.Arg307Ter",
        "hgvsWellDefined": "NP_001369629.1:p.Arg307_Ser1117delinsThrLysTyrGlnGlyIleCysProProValThrArgAsnGluThrHisPheAspAlaGlyAlaLysPheHisValProAsnValThrProTyrIleArgTyrPheValSerPheValLeuGlnPheGlnPheHisGluAlaLeuCysLysGluAlaGlyTyrGluGlyProLeuHisGlnCysAspIleTyrArgSerThrLysAlaGlyAlaLysLeuArgLysValLeuGlnAlaGlySerSerArgProTrpGlnGluValLeuLysAspMetValGlyLeuAspAlaLeuAspAlaGlnProLeuLeuLysTyrPheGlnProValThrGlnTrpLeuGlnGluGlnAsnGlnGlnAsnGlyGluValLeuGlyTrpProGluTyrGlnTrpHisProProLeuProAspAsnTyrProGluGlyIleAspLeuValThrAspGluAlaGluAlaSerLysPheValGluGluTyrAspArgThrSerGlnValValTrpAsnGluTyrAlaGluAlaAsnTrpAsnTyrAsnThrAsnIleThrThrGluThrSerLysIleLeuLeuGlnLysAsnMetGlnIleAlaAsnHisThrLeuLysTyrGlyThrGlnAlaArgLysPheAspValAsnGlnLeuGlnAsnThrThrIleLysArgIleIleLysLysValGlnAspLeuGluArgAlaAlaLeuProAlaGlnGluLeuGluGluTyrAsnLysIleLeuLeuAspMetGluThrThrTyrSerValAlaThrValCysHisProAsnGlySerCysLeuGlnLeuGluProAspLeuThrAsnValMetAlaThrSerArgLysTyrGluAspLeuLeuTrpAlaTrpGluGlyTrpArgAspLysAlaGlyArgAlaIleLeuGlnPheTyrProLysTyrValGluLeuIleAsnGlnAlaAlaArgLeuAsnGlyTyrValAspAlaGlyAspSerTrpArgSerMetTyrGluThrProSerLeuGluGlnAspLeuGluArgLeuPheGlnGluLeuGlnProLeuTyrLeuAsnLeuHisAlaTyrValArgArgAlaLeuHisArgHisTyrGlyAlaGlnHisIleAsnLeuGluGlyProIleProAlaHisLeuLeuGlyAsnMetTrpAlaGlnThrTrpSerAsnIleTyrAspLeuValValProPheProSerAlaProSerMetAspThrThrGluAlaMetLeuLysGlnGlyTrpThrProArgArgMetPheLysGluAlaAspAspPhePheThrSerLeuGlyLeuLeuProValProProGluPheTrpAsnLysSerMetLeuGluLysProThrAspGlyArgGluValValCysHisAlaSerAlaTrpAspPheTyrAsnGlyLysAspPheArgIleLysGlnCysThrThrValAsnLeuGluAspLeuValValAlaHisHisGluMetGlyHisIleGlnTyrPheMetGlnTyrLysAspLeuProValAlaLeuArgGluGlyAlaAsnProGlyPheHisGluAlaIleGlyAspValLeuAlaLeuSerValSerThrProLysHisLeuHisSerLeuAsnLeuLeuSerSerGluGlyGlySerAspGluHisAspIleAsnPheLeuMetLysMetAlaLeuAspLysIleAlaPheIleProPheSerTyrLeuValAspGlnTrpArgTrpArgValPheAspGlySerIleThrLysGluAsnTyrAsnGlnGluTrpTrpSerLeuArgLeuLysTyrGlnGlyLeuCysProProValProArgThrGlnGlyAspPheAspProGlyAlaLysPheHisIleProSerSerValProTyrIleArgTyrPheValSerPheIleIleGlnPheGlnPheHisGluAlaLeuCysGlnAlaAlaGlyHisThrGlyProLeuHisLysCysAspIleTyrGlnSerLysGluAlaGlyGlnArgLeuAlaThrAlaMetLysLeuGlyPheSerArgProTrpProGluAlaMetGlnLeuIleThrGlyGlnProAsnMetSerAlaSerAlaMetLeuSerTyrPheLysProLeuLeuAspTrpLeuArgThrGluAsnGluLeuHisGlyGluLysLeuGlyTrpProGlnTyrAsnTrpThrProAsnSerAlaArgSerGluGlyProLeuProAspSerGlyArgValSerPheLeuGlyLeuAspLeuAspAlaGlnGlnAlaArgValGlyGlnTrpLeuLeuLeuPheLeuGlyIleAlaLeuLeuValAlaThrLeuGlyLeuSerGlnArgLeuPheSerIleArgHisArgSerLeuHisArgHisSerHisGlyProGlnPheGlySerGluValGluLeuArgHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1282,
          "referenceAllele": "C",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382701.1:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369630.1:p.Arg212Ter",
        "hgvsWellDefined": "NP_001369630.1:p.Arg212_Ser1022delinsThrLysTyrGlnGlyIleCysProProValThrArgAsnGluThrHisPheAspAlaGlyAlaLysPheHisValProAsnValThrProTyrIleArgTyrPheValSerPheValLeuGlnPheGlnPheHisGluAlaLeuCysLysGluAlaGlyTyrGluGlyProLeuHisGlnCysAspIleTyrArgSerThrLysAlaGlyAlaLysLeuArgLysValLeuGlnAlaGlySerSerArgProTrpGlnGluValLeuLysAspMetValGlyLeuAspAlaLeuAspAlaGlnProLeuLeuLysTyrPheGlnProValThrGlnTrpLeuGlnGluGlnAsnGlnGlnAsnGlyGluValLeuGlyTrpProGluTyrGlnTrpHisProProLeuProAspAsnTyrProGluGlyIleAspLeuValThrAspGluAlaGluAlaSerLysPheValGluGluTyrAspArgThrSerGlnValValTrpAsnGluTyrAlaGluAlaAsnTrpAsnTyrAsnThrAsnIleThrThrGluThrSerLysIleLeuLeuGlnLysAsnMetGlnIleAlaAsnHisThrLeuLysTyrGlyThrGlnAlaArgLysPheAspValAsnGlnLeuGlnAsnThrThrIleLysArgIleIleLysLysValGlnAspLeuGluArgAlaAlaLeuProAlaGlnGluLeuGluGluTyrAsnLysIleLeuLeuAspMetGluThrThrTyrSerValAlaThrValCysHisProAsnGlySerCysLeuGlnLeuGluProAspLeuThrAsnValMetAlaThrSerArgLysTyrGluAspLeuLeuTrpAlaTrpGluGlyTrpArgAspLysAlaGlyArgAlaIleLeuGlnPheTyrProLysTyrValGluLeuIleAsnGlnAlaAlaArgLeuAsnGlyTyrValAspAlaGlyAspSerTrpArgSerMetTyrGluThrProSerLeuGluGlnAspLeuGluArgLeuPheGlnGluLeuGlnProLeuTyrLeuAsnLeuHisAlaTyrValArgArgAlaLeuHisArgHisTyrGlyAlaGlnHisIleAsnLeuGluGlyProIleProAlaHisLeuLeuGlyAsnMetTrpAlaGlnThrTrpSerAsnIleTyrAspLeuValValProPheProSerAlaProSerMetAspThrThrGluAlaMetLeuLysGlnGlyTrpThrProArgArgMetPheLysGluAlaAspAspPhePheThrSerLeuGlyLeuLeuProValProProGluPheTrpAsnLysSerMetLeuGluLysProThrAspGlyArgGluValValCysHisAlaSerAlaTrpAspPheTyrAsnGlyLysAspPheArgIleLysGlnCysThrThrValAsnLeuGluAspLeuValValAlaHisHisGluMetGlyHisIleGlnTyrPheMetGlnTyrLysAspLeuProValAlaLeuArgGluGlyAlaAsnProGlyPheHisGluAlaIleGlyAspValLeuAlaLeuSerValSerThrProLysHisLeuHisSerLeuAsnLeuLeuSerSerGluGlyGlySerAspGluHisAspIleAsnPheLeuMetLysMetAlaLeuAspLysIleAlaPheIleProPheSerTyrLeuValAspGlnTrpArgTrpArgValPheAspGlySerIleThrLysGluAsnTyrAsnGlnGluTrpTrpSerLeuArgLeuLysTyrGlnGlyLeuCysProProValProArgThrGlnGlyAspPheAspProGlyAlaLysPheHisIleProSerSerValProTyrIleArgTyrPheValSerPheIleIleGlnPheGlnPheHisGluAlaLeuCysGlnAlaAlaGlyHisThrGlyProLeuHisLysCysAspIleTyrGlnSerLysGluAlaGlyGlnArgLeuAlaThrAlaMetLysLeuGlyPheSerArgProTrpProGluAlaMetGlnLeuIleThrGlyGlnProAsnMetSerAlaSerAlaMetLeuSerTyrPheLysProLeuLeuAspTrpLeuArgThrGluAsnGluLeuHisGlyGluLysLeuGlyTrpProGlnTyrAsnTrpThrProAsnSerAlaArgSerGluGlyProLeuProAspSerGlyArgValSerPheLeuGlyLeuAspLeuAspAlaGlnGlnAlaArgValGlyGlnTrpLeuLeuLeuPheLeuGlyIleAlaLeuLeuValAlaThrLeuGlyLeuSerGlnArgLeuPheSerIleArgHisArgSerLeuHisArgHisSerHisGlyProGlnPheGlySerGluValGluLeuArgHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722544"
    }
  ],
  "type": "nucleotide"
}