{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA352193",
  "communityStandardTitle": [
    "NM_001142864.4(PIEZO1):c.4888G>T (p.Glu1630Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224854[alleleid]",
        "alleleId": 224854,
        "preferredName": "NM_001142864.4(PIEZO1):c.4888G>T (p.Glu1630Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/223128",
        "RCV": [
          "RCV000208750"
        ],
        "variationId": 223128
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88788693C>A?assembly=hg19",
        "id": "chr16:g.88788693C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88722285C>A?assembly=hg38",
        "id": "chr16:g.88722285C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869025597",
        "rs": 869025597
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 88722285,
          "referenceAllele": "C",
          "start": 88722284
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88722285C>A",
        "CM000678.2:g.88722285C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 88788693,
          "referenceAllele": "C",
          "start": 88788692
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88788693C>A",
        "CM000678.1:g.88788693C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 87316194,
          "referenceAllele": "C",
          "start": 87316193
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87316194C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 67936,
          "referenceAllele": "G",
          "start": 67935
        }
      ],
      "hgvs": [
        "NG_042229.1:g.67936G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005964"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5144,
          "referenceAllele": "G",
          "start": 5143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "ENST00000301015.14:c.4888G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301015.9:p.Glu1630Ter",
        "hgvsWellDefined": "ENSP00000301015.9:p.Glu1630_Glu2521delinsArgGluAlaGlyAlaSerLeuTyrGlnGlyLeuMetArgThrAlaSerGluLeuLeuLeuAspArgArgLeuArgIleProGluLeuGluGluAlaGluLeuPheAlaGluGlyGlnGlyArgAlaLeuArgLeuLeuArgAlaValTyrGlnCysValAlaAlaHisSerGluLeuLeuCysTyrPheIleIleIleLeuAsnHisMetValThrAlaSerAlaGlySerLeuValLeuProValLeuValPheLeuTrpAlaMetLeuSerIleProArgProSerLysArgPheTrpMetThrAlaIleValPheThrGluIleAlaValValValLysTyrLeuPheGlnPheGlyPhePheProTrpAsnSerHisValValLeuArgArgTyrGluAsnLysProTyrPheProProArgIleLeuGlyLeuGluLysThrAspGlyTyrIleLysTyrAspLeuValGlnLeuMetAlaLeuPhePheHisArgSerGlnLeuLeuCysTyrGlyLeuTrpAspHisGluGluAspSerProSerLysGluHisAspLysSerGlyGluGluGluGlnGlyAlaGluGluGlyProGlyValProAlaAlaThrThrGluAspHisIleGlnValGluAlaArgValGlyProThrAspGlyThrProGluProGlnValGluLeuArgProArgAspThrArgArgIleSerLeuArgPheArgArgArgLysLysGluGlyProAlaArgLysGlyAlaAlaAlaIleGluAlaGluAspArgGluGluGluGluGlyGluGluGluLysGluAlaProThrGlyArgGluLysArgProSerArgSerGlyGlyArgValArgAlaAlaGlyArgArgLeuGlnGlyPheCysLeuSerLeuAlaGlnGlyThrTyrArgProLeuArgArgPhePheHisAspIleLeuHisThrLysTyrArgAlaAlaThrAspValTyrAlaLeuMetPheLeuAlaAspValValAspPheIleIleIleIlePheGlyPheTrpAlaPheGlyLysHisSerAlaAlaThrAspIleThrSerSerLeuSerAspAspGlnValProGluAlaPheLeuValMetLeuLeuIleGlnPheSerThrMetValValAspArgAlaLeuTyrLeuArgLysThrValLeuGlyLysLeuAlaPheGlnValAlaLeuValLeuAlaIleHisLeuTrpMetPhePheIleLeuProAlaValThrGluArgMetPheAsnGlnAsnValValAlaGlnLeuTrpTyrPheValLysCysIleTyrPheAlaLeuSerAlaTyrGlnIleArgCysGlyTyrProThrArgIleLeuGlyAsnPheLeuThrLysLysTyrAsnHisLeuAsnLeuPheLeuPheGlnGlyPheArgLeuValProPheLeuValGluLeuArgAlaValMetAspTrpValTrpThrAspThrThrLeuSerLeuSerSerTrpMetCysValGluAspIleTyrAlaAsnIlePheIleIleLysCysSerArgGluThrGluLysLysTyrProGlnProLysGlyGlnLysLysLysLysIleValLysTyrGlyMetGlyGlyLeuIleIleLeuPheLeuIleAlaIleIleTrpPheProLeuLeuPheMetSerLeuValArgSerValValGlyValValAsnGlnProIleAspValThrValThrLeuLysLeuGlyGlyTyrGluProLeuPheThrMetSerAlaGlnGlnProSerIleIleProPheThrAlaGlnAlaTyrGluGluLeuSerArgGlnPheAspProGlnProLeuAlaMetGlnPheIleSerGlnTyrSerProGluAspIleValThrAlaGlnIleGluGlySerSerGlyAlaLeuTrpArgIleSerProProSerArgAlaGlnMetLysArgGluLeuTyrAsnGlyThrAlaAspIleThrLeuArgPheThrTrpAsnPheGlnArgAspLeuAlaLysGlyGlyThrValGluTyrAlaAsnGluLysHisMetLeuAlaLeuAlaProAsnSerThrAlaArgArgGlnLeuAlaSerLeuLeuGluGlyThrSerAspGlnSerValValIleProAsnLeuPheProLysTyrIleArgAlaProAsnGlyProGluAlaAsnProValLysGlnLeuGlnProAsnGluGluAlaAspTyrLeuGlyValArgIleGlnLeuArgArgGluGlnGlyAlaGlyAlaThrGlyPheLeuGluTrpTrpValIleGluLeuGlnGluCysArgThrAspCysAsnLeuLeuProMetValIlePheSerAspLysValSerProProSerLeuGlyPheLeuAlaGlyTyrGlyIleMetGlyLeuTyrValSerIleValLeuValIleGlyLysPheValArgGlyPhePheSerGluIleSerHisSerIleMetPheGluGluLeuProCysValAspArgIleLeuLysLeuCysGlnAspIlePheLeuValArgGluThrArgGluLeuGluLeuGluGluGluLeuTyrAlaLysLeuIlePheLeuTyrArgSerProGluThrMetIleLysTrpThrArgGluLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301015.14:c.4888G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001142864.4:c.4888G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301015.9:p.Glu1630Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001136336.2:p.Glu1630Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5135,
          "referenceAllele": "G",
          "start": 5134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "ENST00000301015.13:c.4888G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301015.9:p.Glu1630Ter",
        "hgvsWellDefined": "ENSP00000301015.9:p.Glu1630_Glu2521delinsArgGluAlaGlyAlaSerLeuTyrGlnGlyLeuMetArgThrAlaSerGluLeuLeuLeuAspArgArgLeuArgIleProGluLeuGluGluAlaGluLeuPheAlaGluGlyGlnGlyArgAlaLeuArgLeuLeuArgAlaValTyrGlnCysValAlaAlaHisSerGluLeuLeuCysTyrPheIleIleIleLeuAsnHisMetValThrAlaSerAlaGlySerLeuValLeuProValLeuValPheLeuTrpAlaMetLeuSerIleProArgProSerLysArgPheTrpMetThrAlaIleValPheThrGluIleAlaValValValLysTyrLeuPheGlnPheGlyPhePheProTrpAsnSerHisValValLeuArgArgTyrGluAsnLysProTyrPheProProArgIleLeuGlyLeuGluLysThrAspGlyTyrIleLysTyrAspLeuValGlnLeuMetAlaLeuPhePheHisArgSerGlnLeuLeuCysTyrGlyLeuTrpAspHisGluGluAspSerProSerLysGluHisAspLysSerGlyGluGluGluGlnGlyAlaGluGluGlyProGlyValProAlaAlaThrThrGluAspHisIleGlnValGluAlaArgValGlyProThrAspGlyThrProGluProGlnValGluLeuArgProArgAspThrArgArgIleSerLeuArgPheArgArgArgLysLysGluGlyProAlaArgLysGlyAlaAlaAlaIleGluAlaGluAspArgGluGluGluGluGlyGluGluGluLysGluAlaProThrGlyArgGluLysArgProSerArgSerGlyGlyArgValArgAlaAlaGlyArgArgLeuGlnGlyPheCysLeuSerLeuAlaGlnGlyThrTyrArgProLeuArgArgPhePheHisAspIleLeuHisThrLysTyrArgAlaAlaThrAspValTyrAlaLeuMetPheLeuAlaAspValValAspPheIleIleIleIlePheGlyPheTrpAlaPheGlyLysHisSerAlaAlaThrAspIleThrSerSerLeuSerAspAspGlnValProGluAlaPheLeuValMetLeuLeuIleGlnPheSerThrMetValValAspArgAlaLeuTyrLeuArgLysThrValLeuGlyLysLeuAlaPheGlnValAlaLeuValLeuAlaIleHisLeuTrpMetPhePheIleLeuProAlaValThrGluArgMetPheAsnGlnAsnValValAlaGlnLeuTrpTyrPheValLysCysIleTyrPheAlaLeuSerAlaTyrGlnIleArgCysGlyTyrProThrArgIleLeuGlyAsnPheLeuThrLysLysTyrAsnHisLeuAsnLeuPheLeuPheGlnGlyPheArgLeuValProPheLeuValGluLeuArgAlaValMetAspTrpValTrpThrAspThrThrLeuSerLeuSerSerTrpMetCysValGluAspIleTyrAlaAsnIlePheIleIleLysCysSerArgGluThrGluLysLysTyrProGlnProLysGlyGlnLysLysLysLysIleValLysTyrGlyMetGlyGlyLeuIleIleLeuPheLeuIleAlaIleIleTrpPheProLeuLeuPheMetSerLeuValArgSerValValGlyValValAsnGlnProIleAspValThrValThrLeuLysLeuGlyGlyTyrGluProLeuPheThrMetSerAlaGlnGlnProSerIleIleProPheThrAlaGlnAlaTyrGluGluLeuSerArgGlnPheAspProGlnProLeuAlaMetGlnPheIleSerGlnTyrSerProGluAspIleValThrAlaGlnIleGluGlySerSerGlyAlaLeuTrpArgIleSerProProSerArgAlaGlnMetLysArgGluLeuTyrAsnGlyThrAlaAspIleThrLeuArgPheThrTrpAsnPheGlnArgAspLeuAlaLysGlyGlyThrValGluTyrAlaAsnGluLysHisMetLeuAlaLeuAlaProAsnSerThrAlaArgArgGlnLeuAlaSerLeuLeuGluGlyThrSerAspGlnSerValValIleProAsnLeuPheProLysTyrIleArgAlaProAsnGlyProGluAlaAsnProValLysGlnLeuGlnProAsnGluGluAlaAspTyrLeuGlyValArgIleGlnLeuArgArgGluGlnGlyAlaGlyAlaThrGlyPheLeuGluTrpTrpValIleGluLeuGlnGluCysArgThrAspCysAsnLeuLeuProMetValIlePheSerAspLysValSerProProSerLeuGlyPheLeuAlaGlyTyrGlyIleMetGlyLeuTyrValSerIleValLeuValIleGlyLysPheValArgGlyPhePheSerGluIleSerHisSerIleMetPheGluGluLeuProCysValAspArgIleLeuLysLeuCysGlnAspIlePheLeuValArgGluThrArgGluLeuGluLeuGluGluGluLeuTyrAlaLysLeuIlePheLeuTyrArgSerProGluThrMetIleLysTrpThrArgGluLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254941"
    },
    {
      "@id": "http://reg.genome.network/allele/PA352194",
      "coordinates": [
        {
          "allele": "T",
          "end": 4888,
          "referenceAllele": "G",
          "start": 4887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "NM_001142864.2:c.4888G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136336.2:p.Glu1630Ter",
        "hgvsWellDefined": "NP_001136336.2:p.Glu1630_Glu2521delinsArgGluAlaGlyAlaSerLeuTyrGlnGlyLeuMetArgThrAlaSerGluLeuLeuLeuAspArgArgLeuArgIleProGluLeuGluGluAlaGluLeuPheAlaGluGlyGlnGlyArgAlaLeuArgLeuLeuArgAlaValTyrGlnCysValAlaAlaHisSerGluLeuLeuCysTyrPheIleIleIleLeuAsnHisMetValThrAlaSerAlaGlySerLeuValLeuProValLeuValPheLeuTrpAlaMetLeuSerIleProArgProSerLysArgPheTrpMetThrAlaIleValPheThrGluIleAlaValValValLysTyrLeuPheGlnPheGlyPhePheProTrpAsnSerHisValValLeuArgArgTyrGluAsnLysProTyrPheProProArgIleLeuGlyLeuGluLysThrAspGlyTyrIleLysTyrAspLeuValGlnLeuMetAlaLeuPhePheHisArgSerGlnLeuLeuCysTyrGlyLeuTrpAspHisGluGluAspSerProSerLysGluHisAspLysSerGlyGluGluGluGlnGlyAlaGluGluGlyProGlyValProAlaAlaThrThrGluAspHisIleGlnValGluAlaArgValGlyProThrAspGlyThrProGluProGlnValGluLeuArgProArgAspThrArgArgIleSerLeuArgPheArgArgArgLysLysGluGlyProAlaArgLysGlyAlaAlaAlaIleGluAlaGluAspArgGluGluGluGluGlyGluGluGluLysGluAlaProThrGlyArgGluLysArgProSerArgSerGlyGlyArgValArgAlaAlaGlyArgArgLeuGlnGlyPheCysLeuSerLeuAlaGlnGlyThrTyrArgProLeuArgArgPhePheHisAspIleLeuHisThrLysTyrArgAlaAlaThrAspValTyrAlaLeuMetPheLeuAlaAspValValAspPheIleIleIleIlePheGlyPheTrpAlaPheGlyLysHisSerAlaAlaThrAspIleThrSerSerLeuSerAspAspGlnValProGluAlaPheLeuValMetLeuLeuIleGlnPheSerThrMetValValAspArgAlaLeuTyrLeuArgLysThrValLeuGlyLysLeuAlaPheGlnValAlaLeuValLeuAlaIleHisLeuTrpMetPhePheIleLeuProAlaValThrGluArgMetPheAsnGlnAsnValValAlaGlnLeuTrpTyrPheValLysCysIleTyrPheAlaLeuSerAlaTyrGlnIleArgCysGlyTyrProThrArgIleLeuGlyAsnPheLeuThrLysLysTyrAsnHisLeuAsnLeuPheLeuPheGlnGlyPheArgLeuValProPheLeuValGluLeuArgAlaValMetAspTrpValTrpThrAspThrThrLeuSerLeuSerSerTrpMetCysValGluAspIleTyrAlaAsnIlePheIleIleLysCysSerArgGluThrGluLysLysTyrProGlnProLysGlyGlnLysLysLysLysIleValLysTyrGlyMetGlyGlyLeuIleIleLeuPheLeuIleAlaIleIleTrpPheProLeuLeuPheMetSerLeuValArgSerValValGlyValValAsnGlnProIleAspValThrValThrLeuLysLeuGlyGlyTyrGluProLeuPheThrMetSerAlaGlnGlnProSerIleIleProPheThrAlaGlnAlaTyrGluGluLeuSerArgGlnPheAspProGlnProLeuAlaMetGlnPheIleSerGlnTyrSerProGluAspIleValThrAlaGlnIleGluGlySerSerGlyAlaLeuTrpArgIleSerProProSerArgAlaGlnMetLysArgGluLeuTyrAsnGlyThrAlaAspIleThrLeuArgPheThrTrpAsnPheGlnArgAspLeuAlaLysGlyGlyThrValGluTyrAlaAsnGluLysHisMetLeuAlaLeuAlaProAsnSerThrAlaArgArgGlnLeuAlaSerLeuLeuGluGlyThrSerAspGlnSerValValIleProAsnLeuPheProLysTyrIleArgAlaProAsnGlyProGluAlaAsnProValLysGlnLeuGlnProAsnGluGluAlaAspTyrLeuGlyValArgIleGlnLeuArgArgGluGlnGlyAlaGlyAlaThrGlyPheLeuGluTrpTrpValIleGluLeuGlnGluCysArgThrAspCysAsnLeuLeuProMetValIlePheSerAspLysValSerProProSerLeuGlyPheLeuAlaGlyTyrGlyIleMetGlyLeuTyrValSerIleValLeuValIleGlyLysPheValArgGlyPhePheSerGluIleSerHisSerIleMetPheGluGluLeuProCysValAspArgIleLeuLysLeuCysGlnAspIlePheLeuValArgGluThrArgGluLeuGluLeuGluGluGluLeuTyrAlaLysLeuIlePheLeuTyrArgSerProGluThrMetIleLysTrpThrArgGluLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013079"
    },
    {
      "@id": "http://reg.genome.network/allele/PA352194",
      "coordinates": [
        {
          "allele": "T",
          "end": 5144,
          "referenceAllele": "G",
          "start": 5143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "NM_001142864.3:c.4888G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136336.2:p.Glu1630Ter",
        "hgvsWellDefined": "NP_001136336.2:p.Glu1630_Glu2521delinsArgGluAlaGlyAlaSerLeuTyrGlnGlyLeuMetArgThrAlaSerGluLeuLeuLeuAspArgArgLeuArgIleProGluLeuGluGluAlaGluLeuPheAlaGluGlyGlnGlyArgAlaLeuArgLeuLeuArgAlaValTyrGlnCysValAlaAlaHisSerGluLeuLeuCysTyrPheIleIleIleLeuAsnHisMetValThrAlaSerAlaGlySerLeuValLeuProValLeuValPheLeuTrpAlaMetLeuSerIleProArgProSerLysArgPheTrpMetThrAlaIleValPheThrGluIleAlaValValValLysTyrLeuPheGlnPheGlyPhePheProTrpAsnSerHisValValLeuArgArgTyrGluAsnLysProTyrPheProProArgIleLeuGlyLeuGluLysThrAspGlyTyrIleLysTyrAspLeuValGlnLeuMetAlaLeuPhePheHisArgSerGlnLeuLeuCysTyrGlyLeuTrpAspHisGluGluAspSerProSerLysGluHisAspLysSerGlyGluGluGluGlnGlyAlaGluGluGlyProGlyValProAlaAlaThrThrGluAspHisIleGlnValGluAlaArgValGlyProThrAspGlyThrProGluProGlnValGluLeuArgProArgAspThrArgArgIleSerLeuArgPheArgArgArgLysLysGluGlyProAlaArgLysGlyAlaAlaAlaIleGluAlaGluAspArgGluGluGluGluGlyGluGluGluLysGluAlaProThrGlyArgGluLysArgProSerArgSerGlyGlyArgValArgAlaAlaGlyArgArgLeuGlnGlyPheCysLeuSerLeuAlaGlnGlyThrTyrArgProLeuArgArgPhePheHisAspIleLeuHisThrLysTyrArgAlaAlaThrAspValTyrAlaLeuMetPheLeuAlaAspValValAspPheIleIleIleIlePheGlyPheTrpAlaPheGlyLysHisSerAlaAlaThrAspIleThrSerSerLeuSerAspAspGlnValProGluAlaPheLeuValMetLeuLeuIleGlnPheSerThrMetValValAspArgAlaLeuTyrLeuArgLysThrValLeuGlyLysLeuAlaPheGlnValAlaLeuValLeuAlaIleHisLeuTrpMetPhePheIleLeuProAlaValThrGluArgMetPheAsnGlnAsnValValAlaGlnLeuTrpTyrPheValLysCysIleTyrPheAlaLeuSerAlaTyrGlnIleArgCysGlyTyrProThrArgIleLeuGlyAsnPheLeuThrLysLysTyrAsnHisLeuAsnLeuPheLeuPheGlnGlyPheArgLeuValProPheLeuValGluLeuArgAlaValMetAspTrpValTrpThrAspThrThrLeuSerLeuSerSerTrpMetCysValGluAspIleTyrAlaAsnIlePheIleIleLysCysSerArgGluThrGluLysLysTyrProGlnProLysGlyGlnLysLysLysLysIleValLysTyrGlyMetGlyGlyLeuIleIleLeuPheLeuIleAlaIleIleTrpPheProLeuLeuPheMetSerLeuValArgSerValValGlyValValAsnGlnProIleAspValThrValThrLeuLysLeuGlyGlyTyrGluProLeuPheThrMetSerAlaGlnGlnProSerIleIleProPheThrAlaGlnAlaTyrGluGluLeuSerArgGlnPheAspProGlnProLeuAlaMetGlnPheIleSerGlnTyrSerProGluAspIleValThrAlaGlnIleGluGlySerSerGlyAlaLeuTrpArgIleSerProProSerArgAlaGlnMetLysArgGluLeuTyrAsnGlyThrAlaAspIleThrLeuArgPheThrTrpAsnPheGlnArgAspLeuAlaLysGlyGlyThrValGluTyrAlaAsnGluLysHisMetLeuAlaLeuAlaProAsnSerThrAlaArgArgGlnLeuAlaSerLeuLeuGluGlyThrSerAspGlnSerValValIleProAsnLeuPheProLysTyrIleArgAlaProAsnGlyProGluAlaAsnProValLysGlnLeuGlnProAsnGluGluAlaAspTyrLeuGlyValArgIleGlnLeuArgArgGluGlnGlyAlaGlyAlaThrGlyPheLeuGluTrpTrpValIleGluLeuGlnGluCysArgThrAspCysAsnLeuLeuProMetValIlePheSerAspLysValSerProProSerLeuGlyPheLeuAlaGlyTyrGlyIleMetGlyLeuTyrValSerIleValLeuValIleGlyLysPheValArgGlyPhePheSerGluIleSerHisSerIleMetPheGluGluLeuProCysValAspArgIleLeuLysLeuCysGlnAspIlePheLeuValArgGluThrArgGluLeuGluLeuGluGluGluLeuTyrAlaLysLeuIlePheLeuTyrArgSerProGluThrMetIleLysTrpThrArgGluLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA352194",
      "coordinates": [
        {
          "allele": "T",
          "end": 5144,
          "referenceAllele": "G",
          "start": 5143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "NM_001142864.4:c.4888G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136336.2:p.Glu1630Ter",
        "hgvsWellDefined": "NP_001136336.2:p.Glu1630_Glu2521delinsArgGluAlaGlyAlaSerLeuTyrGlnGlyLeuMetArgThrAlaSerGluLeuLeuLeuAspArgArgLeuArgIleProGluLeuGluGluAlaGluLeuPheAlaGluGlyGlnGlyArgAlaLeuArgLeuLeuArgAlaValTyrGlnCysValAlaAlaHisSerGluLeuLeuCysTyrPheIleIleIleLeuAsnHisMetValThrAlaSerAlaGlySerLeuValLeuProValLeuValPheLeuTrpAlaMetLeuSerIleProArgProSerLysArgPheTrpMetThrAlaIleValPheThrGluIleAlaValValValLysTyrLeuPheGlnPheGlyPhePheProTrpAsnSerHisValValLeuArgArgTyrGluAsnLysProTyrPheProProArgIleLeuGlyLeuGluLysThrAspGlyTyrIleLysTyrAspLeuValGlnLeuMetAlaLeuPhePheHisArgSerGlnLeuLeuCysTyrGlyLeuTrpAspHisGluGluAspSerProSerLysGluHisAspLysSerGlyGluGluGluGlnGlyAlaGluGluGlyProGlyValProAlaAlaThrThrGluAspHisIleGlnValGluAlaArgValGlyProThrAspGlyThrProGluProGlnValGluLeuArgProArgAspThrArgArgIleSerLeuArgPheArgArgArgLysLysGluGlyProAlaArgLysGlyAlaAlaAlaIleGluAlaGluAspArgGluGluGluGluGlyGluGluGluLysGluAlaProThrGlyArgGluLysArgProSerArgSerGlyGlyArgValArgAlaAlaGlyArgArgLeuGlnGlyPheCysLeuSerLeuAlaGlnGlyThrTyrArgProLeuArgArgPhePheHisAspIleLeuHisThrLysTyrArgAlaAlaThrAspValTyrAlaLeuMetPheLeuAlaAspValValAspPheIleIleIleIlePheGlyPheTrpAlaPheGlyLysHisSerAlaAlaThrAspIleThrSerSerLeuSerAspAspGlnValProGluAlaPheLeuValMetLeuLeuIleGlnPheSerThrMetValValAspArgAlaLeuTyrLeuArgLysThrValLeuGlyLysLeuAlaPheGlnValAlaLeuValLeuAlaIleHisLeuTrpMetPhePheIleLeuProAlaValThrGluArgMetPheAsnGlnAsnValValAlaGlnLeuTrpTyrPheValLysCysIleTyrPheAlaLeuSerAlaTyrGlnIleArgCysGlyTyrProThrArgIleLeuGlyAsnPheLeuThrLysLysTyrAsnHisLeuAsnLeuPheLeuPheGlnGlyPheArgLeuValProPheLeuValGluLeuArgAlaValMetAspTrpValTrpThrAspThrThrLeuSerLeuSerSerTrpMetCysValGluAspIleTyrAlaAsnIlePheIleIleLysCysSerArgGluThrGluLysLysTyrProGlnProLysGlyGlnLysLysLysLysIleValLysTyrGlyMetGlyGlyLeuIleIleLeuPheLeuIleAlaIleIleTrpPheProLeuLeuPheMetSerLeuValArgSerValValGlyValValAsnGlnProIleAspValThrValThrLeuLysLeuGlyGlyTyrGluProLeuPheThrMetSerAlaGlnGlnProSerIleIleProPheThrAlaGlnAlaTyrGluGluLeuSerArgGlnPheAspProGlnProLeuAlaMetGlnPheIleSerGlnTyrSerProGluAspIleValThrAlaGlnIleGluGlySerSerGlyAlaLeuTrpArgIleSerProProSerArgAlaGlnMetLysArgGluLeuTyrAsnGlyThrAlaAspIleThrLeuArgPheThrTrpAsnPheGlnArgAspLeuAlaLysGlyGlyThrValGluTyrAlaAsnGluLysHisMetLeuAlaLeuAlaProAsnSerThrAlaArgArgGlnLeuAlaSerLeuLeuGluGlyThrSerAspGlnSerValValIleProAsnLeuPheProLysTyrIleArgAlaProAsnGlyProGluAlaAsnProValLysGlnLeuGlnProAsnGluGluAlaAspTyrLeuGlyValArgIleGlnLeuArgArgGluGlnGlyAlaGlyAlaThrGlyPheLeuGluTrpTrpValIleGluLeuGlnGluCysArgThrAspCysAsnLeuLeuProMetValIlePheSerAspLysValSerProProSerLeuGlyPheLeuAlaGlyTyrGlyIleMetGlyLeuTyrValSerIleValLeuValIleGlyLysPheValArgGlyPhePheSerGluIleSerHisSerIleMetPheGluGluLeuProCysValAspArgIleLeuLysLeuCysGlnAspIlePheLeuValArgGluThrArgGluLeuGluLeuGluGluGluLeuTyrAlaLysLeuIlePheLeuTyrArgSerProGluThrMetIleLysTrpThrArgGluLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301015.14:c.4888G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001142864.4:c.4888G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301015.9:p.Glu1630Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001136336.2:p.Glu1630Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}