{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA404252917",
  "communityStandardTitle": [
    "NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2969855[alleleid]",
        "alleleId": 2969855,
        "preferredName": "NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2815184",
        "RCV": [
          "RCV003601597"
        ],
        "variationId": 2815184
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12774599C>T?assembly=hg19",
        "id": "chr19:g.12774599C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12663785C>T?assembly=hg38",
        "id": "chr19:g.12663785C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2512512433",
        "rs": 2512512433
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12663785-C-T?dataset=gnomad_r3",
        "id": "19-12663785-C-T",
        "variant": "19:12663785 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12663785-C-T?dataset=gnomad_r4",
        "id": "19-12663785-C-T",
        "variant": "19:12663785 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 12663785,
          "referenceAllele": "C",
          "start": 12663784
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12663785C>T",
        "CM000681.2:g.12663785C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 12774599,
          "referenceAllele": "C",
          "start": 12774598
        }
      ],
      "hgvs": [
        "NC_000019.9:g.12774599C>T",
        "CM000681.1:g.12774599C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 12635599,
          "referenceAllele": "C",
          "start": 12635598
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12635599C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7993,
          "referenceAllele": "G",
          "start": 7992
        }
      ],
      "hgvs": [
        "NG_008318.1:g.7993G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "hgvs": [
        "NG_015814.1:g.1982C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002846"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.7:c.681G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:p.Trp227Ter",
        "hgvsWellDefined": "ENSP00000395473.2:p.Trp227_Gly1011delinsValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.681G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.681G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Trp227Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Trp227Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000221363.8:c.681G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221363.4:p.Trp227Ter",
        "hgvsWellDefined": "ENSP00000221363.4:p.Trp227_Gly1010delinsValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.6:c.681G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:p.Trp227Ter",
        "hgvsWellDefined": "ENSP00000395473.2:p.Trp227_Gly1011delinsValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 663,
          "referenceAllele": "G",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000466794.5:n.663G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000486847.2:c.384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470174.1:p.Trp128Ter",
        "hgvsWellDefined": "ENSP00000470174.1:p.Trp128_Pro165del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825182012",
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "G",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.3:c.681G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Trp227Ter",
        "hgvsWellDefined": "NP_000519.2:p.Trp227_Gly1011delinsValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741843737",
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "G",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.1:c.681G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Trp227Ter",
        "hgvsWellDefined": "NP_001166969.1:p.Trp227_Gly1010delinsValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.1:c.681G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Trp227Ter",
        "hgvsWellDefined": "XP_005259970.1:p.Trp227_Gly1012delinsValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.2:c.681G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Trp227Ter",
        "hgvsWellDefined": "XP_005259970.1:p.Trp227_Gly1012delinsValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_024451518.1:c.-338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307286.1:n.-338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825182012",
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.4:c.681G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Trp227Ter",
        "hgvsWellDefined": "NP_000519.2:p.Trp227_Gly1011delinsValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662473",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.681G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.681G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Trp227Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Trp227Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741843737",
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.2:c.681G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Trp227Ter",
        "hgvsWellDefined": "NP_001166969.1:p.Trp227_Gly1010delinsValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713478"
    }
  ],
  "type": "nucleotide"
}