{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123035",
  "communityStandardTitle": [
    "NM_000313.4(PROS1):c.835C>T (p.Gln279Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28361[alleleid]",
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        "preferredName": "NM_000313.4(PROS1):c.835C>T (p.Gln279Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13322",
        "RCV": [
          "RCV000014250",
          "RCV003528135"
        ],
        "variationId": 13322
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.93617306G>A?assembly=hg19",
        "id": "chr3:g.93617306G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.93898462G>A?assembly=hg38",
        "id": "chr3:g.93898462G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918475",
        "rs": 121918475
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-93898462-G-A?dataset=gnomad_r4",
        "id": "3-93898462-G-A",
        "variant": "3:93898462 G / A"
      }
    ]
  },
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    {
      "chromosome": "3",
      "coordinates": [
        {
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      ],
      "hgvs": [
        "NC_000003.12:g.93898462G>A",
        "CM000665.2:g.93898462G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
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          "referenceAllele": "G",
          "start": 93617305
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      "hgvs": [
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "3",
      "coordinates": [
        {
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        }
      ],
      "hgvs": [
        "NC_000003.10:g.95099996G>A"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
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      "coordinates": [
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        "LRG_572:g.80629C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001650"
    }
  ],
  "transcriptAlleles": [
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        {
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      "geneNCBI_id": 5627,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748386"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_000313.4:c.835C>T"
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            "hgvs": "ENSP00000377783.3:p.Gln279Ter"
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          "RefSeq": {
            "hgvs": "NP_000304.2:p.Gln279Ter"
          }
        }
      }
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    {
      "coordinates": [
        {
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          "start": 937
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754196"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
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      "gene": "http://reg.genome.network/gene/GN009456",
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      "referenceSequence": "http://reg.genome.network/refseq/RS769949"
    },
    {
      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 934,
          "referenceAllele": "C",
          "start": 933
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      ],
      "gene": "http://reg.genome.network/gene/GN009456",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000497962.1:n.934C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS770351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN009456",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000497376.1:p.Gln311_Ser708delinsLysSerCysGluValValSerValCysLeuProLeuAsnLeuAspThrLysTyrGluLeuLeuTyrLeuAlaGluGlnPheAlaGlyValValLeuTyrLeuLysPheArgLeuProGluIleSerArgPheSerAlaGluPheAspPheArgThrTyrAspSerGluGlyValIleLeuTyrAlaGluSerIleAspHisSerAlaTrpLeuLeuIleAlaLeuArgGlyGlyLysIleGluValGlnLeuLysAsnGluHisThrSerLysIleThrThrGlyGlyAspValIleAsnAsnGlyLeuTrpAsnMetValSerValGluGluLeuGluHisSerIleSerIleLysIleAlaLysGluAlaValMetAspIleAsnLysProGlyProLeuPheLysProGluAsnGlyLeuLeuGluThrLysValTyrPheAlaGlyPheProArgLysValGluSerGluLeuIleLysProIleAsnProArgLeuAspGlyCysIleArgSerTrpAsnLeuMetLysGlnGlyAlaSerGlyIleLysGluIleIleGlnGluLysGlnAsnLysHisCysLeuValThrValGluLysGlySerTyrTyrProGlySerGlyIleAlaGlnPheHisIleAspTyrAsnAsnValSerSerAlaGluGlyTrpHisValAsnValThrLeuAsnIleArgProSerThrGlyThrGlyValMetLeuAlaLeuValSerGlyAsnAsnThrValProPheAlaValSerLeuValAspSerThrSerGluLysSerGlnAspIleLeuLeuSerValGluAsnThrValIleTyrArgIleGlnAlaLeuSerLeuCysSerAspGlnGlnSerHisLeuGluPheArgValAsnArgAsnAsnLeuGluLeuSerThrProLeuLysIleGluThrIleSerHisGluAspLeuGlnArgGlnLeuAlaValLeuAspLysAlaMetLysAlaLysValAlaThrTyrLeuGlyGlyLeuProAspValProPheSerAlaThrProValAsnAlaPheTyrAsnGlyCysMetGluValAsnIleAsnGlyValGlnLeuAspLeuAspGluAlaIleSerLysHisAsnAspIleArgAlaHisSerCysProSerValTrpLysLysThrLysAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000385794.1:p.Gln148Ter",
        "hgvsWellDefined": "ENSP00000385794.1:p.Gln148_Ser545delinsLysSerCysGluValValSerValCysLeuProLeuAsnLeuAspThrLysTyrGluLeuLeuTyrLeuAlaGluGlnPheAlaGlyValValLeuTyrLeuLysPheArgLeuProGluIleSerArgPheSerAlaGluPheAspPheArgThrTyrAspSerGluGlyValIleLeuTyrAlaGluSerIleAspHisSerAlaTrpLeuLeuIleAlaLeuArgGlyGlyLysIleGluValGlnLeuLysAsnGluHisThrSerLysIleThrThrGlyGlyAspValIleAsnAsnGlyLeuTrpAsnMetValSerValGluGluLeuGluHisSerIleSerIleLysIleAlaLysGluAlaValMetAspIleAsnLysProGlyProLeuPheLysProGluAsnGlyLeuLeuGluThrLysValTyrPheAlaGlyPheProArgLysValGluSerGluLeuIleLysProIleAsnProArgLeuAspGlyCysIleArgSerTrpAsnLeuMetLysGlnGlyAlaSerGlyIleLysGluIleIleGlnGluLysGlnAsnLysHisCysLeuValThrValGluLysGlySerTyrTyrProGlySerGlyIleAlaGlnPheHisIleAspTyrAsnAsnValSerSerAlaGluGlyTrpHisValAsnValThrLeuAsnIleArgProSerThrGlyThrGlyValMetLeuAlaLeuValSerGlyAsnAsnThrValProPheAlaValSerLeuValAspSerThrSerGluLysSerGlnAspIleLeuLeuSerValGluAsnThrValIleTyrArgIleGlnAlaLeuSerLeuCysSerAspGlnGlnSerHisLeuGluPheArgValAsnArgAsnAsnLeuGluLeuSerThrProLeuLysIleGluThrIleSerHisGluAspLeuGlnArgGlnLeuAlaValLeuAspLysAlaMetLysAlaLysValAlaThrTyrLeuGlyGlyLeuProAspValProPheSerAlaThrProValAsnAlaPheTyrAsnGlyCysMetGluValAsnIleAsnGlyValGlnLeuAspLeuAspGluAlaIleSerLysHisAsnAspIleArgAlaHisSerCysProSerValTrpLysLysThrLysAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123036",
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_000313.3:c.835C>T",
        "LRG_572t1:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000304.2:p.Gln279Ter",
        "hgvsWellDefined": "NP_000304.2:p.Gln279_Ser676delinsLysSerCysGluValValSerValCysLeuProLeuAsnLeuAspThrLysTyrGluLeuLeuTyrLeuAlaGluGlnPheAlaGlyValValLeuTyrLeuLysPheArgLeuProGluIleSerArgPheSerAlaGluPheAspPheArgThrTyrAspSerGluGlyValIleLeuTyrAlaGluSerIleAspHisSerAlaTrpLeuLeuIleAlaLeuArgGlyGlyLysIleGluValGlnLeuLysAsnGluHisThrSerLysIleThrThrGlyGlyAspValIleAsnAsnGlyLeuTrpAsnMetValSerValGluGluLeuGluHisSerIleSerIleLysIleAlaLysGluAlaValMetAspIleAsnLysProGlyProLeuPheLysProGluAsnGlyLeuLeuGluThrLysValTyrPheAlaGlyPheProArgLysValGluSerGluLeuIleLysProIleAsnProArgLeuAspGlyCysIleArgSerTrpAsnLeuMetLysGlnGlyAlaSerGlyIleLysGluIleIleGlnGluLysGlnAsnLysHisCysLeuValThrValGluLysGlySerTyrTyrProGlySerGlyIleAlaGlnPheHisIleAspTyrAsnAsnValSerSerAlaGluGlyTrpHisValAsnValThrLeuAsnIleArgProSerThrGlyThrGlyValMetLeuAlaLeuValSerGlyAsnAsnThrValProPheAlaValSerLeuValAspSerThrSerGluLysSerGlnAspIleLeuLeuSerValGluAsnThrValIleTyrArgIleGlnAlaLeuSerLeuCysSerAspGlnGlnSerHisLeuGluPheArgValAsnArgAsnAsnLeuGluLeuSerThrProLeuLysIleGluThrIleSerHisGluAspLeuGlnArgGlnLeuAlaValLeuAspLysAlaMetLysAlaLysValAlaThrTyrLeuGlyGlyLeuProAspValProPheSerAlaThrProValAsnAlaPheTyrAsnGlyCysMetGluValAsnIleAsnGlyValGlnLeuAspLeuAspGluAlaIleSerLysHisAsnAspIleArgAlaHisSerCysProSerValTrpLysLysThrLysAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA351393",
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_001314077.1:c.931C>T",
        "LRG_572t2:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001301006.1:p.Gln311Ter",
        "hgvsWellDefined": "NP_001301006.1:p.Gln311_Ser708delinsLysSerCysGluValValSerValCysLeuProLeuAsnLeuAspThrLysTyrGluLeuLeuTyrLeuAlaGluGlnPheAlaGlyValValLeuTyrLeuLysPheArgLeuProGluIleSerArgPheSerAlaGluPheAspPheArgThrTyrAspSerGluGlyValIleLeuTyrAlaGluSerIleAspHisSerAlaTrpLeuLeuIleAlaLeuArgGlyGlyLysIleGluValGlnLeuLysAsnGluHisThrSerLysIleThrThrGlyGlyAspValIleAsnAsnGlyLeuTrpAsnMetValSerValGluGluLeuGluHisSerIleSerIleLysIleAlaLysGluAlaValMetAspIleAsnLysProGlyProLeuPheLysProGluAsnGlyLeuLeuGluThrLysValTyrPheAlaGlyPheProArgLysValGluSerGluLeuIleLysProIleAsnProArgLeuAspGlyCysIleArgSerTrpAsnLeuMetLysGlnGlyAlaSerGlyIleLysGluIleIleGlnGluLysGlnAsnLysHisCysLeuValThrValGluLysGlySerTyrTyrProGlySerGlyIleAlaGlnPheHisIleAspTyrAsnAsnValSerSerAlaGluGlyTrpHisValAsnValThrLeuAsnIleArgProSerThrGlyThrGlyValMetLeuAlaLeuValSerGlyAsnAsnThrValProPheAlaValSerLeuValAspSerThrSerGluLysSerGlnAspIleLeuLeuSerValGluAsnThrValIleTyrArgIleGlnAlaLeuSerLeuCysSerAspGlnGlnSerHisLeuGluPheArgValAsnArgAsnAsnLeuGluLeuSerThrProLeuLysIleGluThrIleSerHisGluAspLeuGlnArgGlnLeuAlaValLeuAspLysAlaMetLysAlaLysValAlaThrTyrLeuGlyGlyLeuProAspValProPheSerAlaThrProValAsnAlaPheTyrAsnGlyCysMetGluValAsnIleAsnGlyValGlnLeuAspLeuAspGluAlaIleSerLysHisAsnAspIleArgAlaHisSerCysProSerValTrpLysLysThrLysAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123036",
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "C",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_000313.4:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000304.2:p.Gln279Ter",
        "hgvsWellDefined": "NP_000304.2:p.Gln279_Ser676delinsLysSerCysGluValValSerValCysLeuProLeuAsnLeuAspThrLysTyrGluLeuLeuTyrLeuAlaGluGlnPheAlaGlyValValLeuTyrLeuLysPheArgLeuProGluIleSerArgPheSerAlaGluPheAspPheArgThrTyrAspSerGluGlyValIleLeuTyrAlaGluSerIleAspHisSerAlaTrpLeuLeuIleAlaLeuArgGlyGlyLysIleGluValGlnLeuLysAsnGluHisThrSerLysIleThrThrGlyGlyAspValIleAsnAsnGlyLeuTrpAsnMetValSerValGluGluLeuGluHisSerIleSerIleLysIleAlaLysGluAlaValMetAspIleAsnLysProGlyProLeuPheLysProGluAsnGlyLeuLeuGluThrLysValTyrPheAlaGlyPheProArgLysValGluSerGluLeuIleLysProIleAsnProArgLeuAspGlyCysIleArgSerTrpAsnLeuMetLysGlnGlyAlaSerGlyIleLysGluIleIleGlnGluLysGlnAsnLysHisCysLeuValThrValGluLysGlySerTyrTyrProGlySerGlyIleAlaGlnPheHisIleAspTyrAsnAsnValSerSerAlaGluGlyTrpHisValAsnValThrLeuAsnIleArgProSerThrGlyThrGlyValMetLeuAlaLeuValSerGlyAsnAsnThrValProPheAlaValSerLeuValAspSerThrSerGluLysSerGlnAspIleLeuLeuSerValGluAsnThrValIleTyrArgIleGlnAlaLeuSerLeuCysSerAspGlnGlnSerHisLeuGluPheArgValAsnArgAsnAsnLeuGluLeuSerThrProLeuLysIleGluThrIleSerHisGluAspLeuGlnArgGlnLeuAlaValLeuAspLysAlaMetLysAlaLysValAlaThrTyrLeuGlyGlyLeuProAspValProPheSerAlaThrProValAsnAlaPheTyrAsnGlyCysMetGluValAsnIleAsnGlyValGlnLeuAspLeuAspGluAlaIleSerLysHisAsnAspIleArgAlaHisSerCysProSerValTrpLysLysThrLysAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674787",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394236.9:c.835C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000313.4:c.835C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377783.3:p.Gln279Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000304.2:p.Gln279Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA351393",
      "coordinates": [
        {
          "allele": "T",
          "end": 1078,
          "referenceAllele": "C",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_001314077.2:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001301006.1:p.Gln311Ter",
        "hgvsWellDefined": "NP_001301006.1:p.Gln311_Ser708delinsLysSerCysGluValValSerValCysLeuProLeuAsnLeuAspThrLysTyrGluLeuLeuTyrLeuAlaGluGlnPheAlaGlyValValLeuTyrLeuLysPheArgLeuProGluIleSerArgPheSerAlaGluPheAspPheArgThrTyrAspSerGluGlyValIleLeuTyrAlaGluSerIleAspHisSerAlaTrpLeuLeuIleAlaLeuArgGlyGlyLysIleGluValGlnLeuLysAsnGluHisThrSerLysIleThrThrGlyGlyAspValIleAsnAsnGlyLeuTrpAsnMetValSerValGluGluLeuGluHisSerIleSerIleLysIleAlaLysGluAlaValMetAspIleAsnLysProGlyProLeuPheLysProGluAsnGlyLeuLeuGluThrLysValTyrPheAlaGlyPheProArgLysValGluSerGluLeuIleLysProIleAsnProArgLeuAspGlyCysIleArgSerTrpAsnLeuMetLysGlnGlyAlaSerGlyIleLysGluIleIleGlnGluLysGlnAsnLysHisCysLeuValThrValGluLysGlySerTyrTyrProGlySerGlyIleAlaGlnPheHisIleAspTyrAsnAsnValSerSerAlaGluGlyTrpHisValAsnValThrLeuAsnIleArgProSerThrGlyThrGlyValMetLeuAlaLeuValSerGlyAsnAsnThrValProPheAlaValSerLeuValAspSerThrSerGluLysSerGlnAspIleLeuLeuSerValGluAsnThrValIleTyrArgIleGlnAlaLeuSerLeuCysSerAspGlnGlnSerHisLeuGluPheArgValAsnArgAsnAsnLeuGluLeuSerThrProLeuLysIleGluThrIleSerHisGluAspLeuGlnArgGlnLeuAlaValLeuAspLysAlaMetLysAlaLysValAlaThrTyrLeuGlyGlyLeuProAspValProPheSerAlaThrProValAsnAlaPheTyrAsnGlyCysMetGluValAsnIleAsnGlyValGlnLeuAspLeuAspGluAlaIleSerLysHisAsnAspIleArgAlaHisSerCysProSerValTrpLysLysThrLysAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717343"
    }
  ],
  "type": "nucleotide"
}