{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA380273618",
  "communityStandardTitle": [
    "NM_002334.4(LRP4):c.3557G>A (p.Trp1186Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46897497C>T?assembly=hg19",
        "id": "chr11:g.46897497C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46875946C>T?assembly=hg38",
        "id": "chr11:g.46875946C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906883",
        "rs": 387906883
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46897497-C-T?dataset=gnomad_r2_1",
        "id": "11-46897497-C-T",
        "variant": "11:46897497 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 46875946,
          "referenceAllele": "C",
          "start": 46875945
        }
      ],
      "hgvs": [
        "NC_000011.10:g.46875946C>T",
        "CM000673.2:g.46875946C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 46897497,
          "referenceAllele": "C",
          "start": 46897496
        }
      ],
      "hgvs": [
        "NC_000011.9:g.46897497C>T",
        "CM000673.1:g.46897497C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 46854073,
          "referenceAllele": "C",
          "start": 46854072
        }
      ],
      "hgvs": [
        "NC_000011.8:g.46854073C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47677,
          "referenceAllele": "G",
          "start": 47676
        }
      ],
      "hgvs": [
        "NG_021394.1:g.47677G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003621"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3728,
          "referenceAllele": "G",
          "start": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.6:c.3557G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.Trp1186Ter",
        "hgvsWellDefined": "ENSP00000367888.1:p.Trp1186_Val1905delinsGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.3557G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.3557G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.Trp1186Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.Trp1186Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3800,
          "referenceAllele": "G",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.5:c.3557G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.Trp1186Ter",
        "hgvsWellDefined": "ENSP00000367888.1:p.Trp1186_Val1905delinsGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077853708",
      "coordinates": [
        {
          "allele": "A",
          "end": 3800,
          "referenceAllele": "G",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.3:c.3557G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.Trp1186Ter",
        "hgvsWellDefined": "NP_002325.2:p.Trp1186_Val1905delinsGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3785,
          "referenceAllele": "G",
          "start": 3784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520102.1:c.3770G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518404.1:p.Trp1257Ter",
        "hgvsWellDefined": "XP_011518404.1:p.Trp1257_Val1976delinsGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2858,
          "referenceAllele": "G",
          "start": 2857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.1:c.2753G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:p.Trp918Ter",
        "hgvsWellDefined": "XP_011518405.1:p.Trp918_Val1637delinsGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1337,
          "referenceAllele": "G",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520104.1:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518406.1:p.Trp441Ter",
        "hgvsWellDefined": "XP_011518406.1:p.Trp441_Val1160delinsGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2870,
          "referenceAllele": "G",
          "start": 2869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.2:c.2753G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:p.Trp918Ter",
        "hgvsWellDefined": "XP_011518405.1:p.Trp918_Val1637delinsGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1337,
          "referenceAllele": "G",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520104.2:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518406.1:p.Trp441Ter",
        "hgvsWellDefined": "XP_011518406.1:p.Trp441_Val1160delinsGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3717,
          "referenceAllele": "G",
          "start": 3716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_017017734.1:c.3557G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873223.1:p.Trp1186Ter",
        "hgvsWellDefined": "XP_016873223.1:p.Trp1186_Phe1809delinsGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlnLeuPheHisProSerAspSerLeuSerProPheLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077853708",
      "coordinates": [
        {
          "allele": "A",
          "end": 3728,
          "referenceAllele": "G",
          "start": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.4:c.3557G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.Trp1186Ter",
        "hgvsWellDefined": "NP_002325.2:p.Trp1186_Val1905delinsGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665470",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.3557G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.3557G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.Trp1186Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.Trp1186Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}