{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043764",
  "communityStandardTitle": [
    "NM_002335.4(LRP5):c.2457C>G (p.Tyr819Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361381[alleleid]",
        "alleleId": 361381,
        "preferredName": "NM_002335.4(LRP5):c.2457C>G (p.Tyr819Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374495",
        "RCV": [
          "RCV000415804"
        ],
        "variationId": 374495
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68179042C>G?assembly=hg19",
        "id": "chr11:g.68179042C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68411574C>G?assembly=hg38",
        "id": "chr11:g.68411574C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519127",
        "rs": 1057519127
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68179042-C-G?dataset=gnomad_r2_1",
        "id": "11-68179042-C-G",
        "variant": "11:68179042 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68411574-C-G?dataset=gnomad_r4",
        "id": "11-68411574-C-G",
        "variant": "11:68411574 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68411574,
          "referenceAllele": "C",
          "start": 68411573
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68411574C>G",
        "CM000673.2:g.68411574C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68179042,
          "referenceAllele": "C",
          "start": 68179041
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68179042C>G",
        "CM000673.1:g.68179042C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 67935618,
          "referenceAllele": "C",
          "start": 67935617
        }
      ],
      "hgvs": [
        "NC_000011.8:g.67935618C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 103935,
          "referenceAllele": "C",
          "start": 103934
        }
      ],
      "hgvs": [
        "NG_015835.1:g.103935C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 103935,
          "referenceAllele": "C",
          "start": 103934
        }
      ],
      "hgvs": [
        "NG_015835.2:g.103935C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673645"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2581,
          "referenceAllele": "C",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "ENST00000294304.12:c.2457C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294304.6:p.Tyr819Ter",
        "hgvsWellDefined": "ENSP00000294304.6:p.Tyr819_Ser1615delinsTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294304.12:c.2457C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002335.4:c.2457C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294304.6:p.Tyr819Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002326.2:p.Tyr819Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2563,
          "referenceAllele": "C",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "ENST00000294304.11:c.2457C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294304.6:p.Tyr819Ter",
        "hgvsWellDefined": "ENSP00000294304.6:p.Tyr819_Ser1615delinsTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253957"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "ENST00000528714.1:n.251C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2510,
          "referenceAllele": "C",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "ENST00000529993.5:c.*1063C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436652.1:n.*1063C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826813143",
      "coordinates": [
        {
          "allele": "G",
          "end": 2585,
          "referenceAllele": "C",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_001291902.1:c.714C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278831.1:p.Tyr238Ter",
        "hgvsWellDefined": "NP_001278831.1:p.Tyr238_Ser1034delinsTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645443879",
      "coordinates": [
        {
          "allele": "G",
          "end": 2563,
          "referenceAllele": "C",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_002335.3:c.2457C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002326.2:p.Tyr819Ter",
        "hgvsWellDefined": "NP_002326.2:p.Tyr819_Ser1615delinsTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2558,
          "referenceAllele": "C",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_005273994.2:c.2457C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274051.1:p.Tyr819Ter",
        "hgvsWellDefined": "XP_005274051.1:p.Tyr819_Ser1653delinsTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProGlyLeuGlySerGlyCysMetLeuSerArgMetAlaLeuGluThrHisIleSerProThrProPheGlyLysLeuHisValGlyLeuGlyCysArgGlnTrpHisLeuTrpLysIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2499,
          "referenceAllele": "C",
          "start": 2498
        }
      ],
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      "geneNCBI_id": 4041,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2499,
          "referenceAllele": "C",
          "start": 2498
        }
      ],
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      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS111937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2499,
          "referenceAllele": "C",
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        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011543333.1:p.Tyr828_Val1600delinsTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProGlyLeuGlySerGlyCysMetLeuSerArgMetAlaLeuGluThrHisIleSerProThrProPheGlyLysLeuHisValGlyLeuGlyCysArgGlnTrpHisLeuTrpLysValGlnThrCysValAspProGluProAlaAlaLeuProGlyHisGlyProLeuProValGlnHisGlyHisValLeuLeuPheLysHisSerGlyHisCysGluThrValGlnAlaLeuHisHisSerArgAsnGlyAlaProAspAspAlaLeuGlnHisArgArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2499,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS143245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS143246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
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          "start": 778
        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
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      "referenceSequence": "http://reg.genome.network/refseq/RS595971"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
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      "referenceSequence": "http://reg.genome.network/refseq/RS615426"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
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      "referenceSequence": "http://reg.genome.network/refseq/RS615427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645443879",
      "coordinates": [
        {
          "allele": "G",
          "end": 2581,
          "referenceAllele": "C",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
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      "hgvs": [
        "NM_002335.4:c.2457C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002326.2:p.Tyr819Ter",
        "hgvsWellDefined": "NP_002326.2:p.Tyr819_Ser1615delinsTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665471",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294304.12:c.2457C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002335.4:c.2457C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294304.6:p.Tyr819Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002326.2:p.Tyr819Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826813143",
      "coordinates": [
        {
          "allele": "G",
          "end": 2603,
          "referenceAllele": "C",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_001291902.2:c.714C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278831.1:p.Tyr238Ter",
        "hgvsWellDefined": "NP_001278831.1:p.Tyr238_Ser1034delinsTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682899"
    }
  ],
  "type": "nucleotide"
}