{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9226780",
  "communityStandardTitle": [
    "NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=621629[alleleid]",
        "alleleId": 621629,
        "preferredName": "NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/633292",
        "RCV": [
          "RCV000781513",
          "RCV003106059"
        ],
        "variationId": 633292
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-12775674-G-A",
        "id": "19-12775674-G-A",
        "variant": "19:12775674 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12775674G>A?assembly=hg19",
        "id": "chr19:g.12775674G>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12775674_12775675delinsAC?assembly=hg19",
        "id": "chr19:g.12775674_12775675delinsAC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12664860G>A?assembly=hg38",
        "id": "chr19:g.12664860G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1429239930",
        "rs": 1429239930
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12775674-G-A?dataset=gnomad_r2_1",
        "id": "19-12775674-G-A",
        "variant": "19:12775674 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12664860-G-A?dataset=gnomad_r3",
        "id": "19-12664860-G-A",
        "variant": "19:12664860 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12664860-G-A?dataset=gnomad_r4",
        "id": "19-12664860-G-A",
        "variant": "19:12664860 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12664860,
          "referenceAllele": "G",
          "start": 12664859
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12664860G>A",
        "CM000681.2:g.12664860G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12775674,
          "referenceAllele": "G",
          "start": 12775673
        }
      ],
      "hgvs": [
        "NC_000019.9:g.12775674G>A",
        "CM000681.1:g.12775674G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12636674,
          "referenceAllele": "G",
          "start": 12636673
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12636674G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6918,
          "referenceAllele": "C",
          "start": 6917
        }
      ],
      "hgvs": [
        "NG_008318.1:g.6918C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3057,
          "referenceAllele": "G",
          "start": 3056
        }
      ],
      "hgvs": [
        "NG_015814.1:g.3057G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002846"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.7:c.562C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000395473.2:p.Arg188_Gly1011delinsProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.562C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.562C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Arg188Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Arg188Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000221363.8:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221363.4:p.Arg188Ter",
        "hgvsWellDefined": "ENSP00000221363.4:p.Arg188_Gly1010delinsProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.6:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:p.Arg188Ter",
        "hgvsWellDefined": "ENSP00000395473.2:p.Arg188_Gly1011delinsProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000466794.5:n.544C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS310063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "endIntronDirection": "+",
          "endIntronOffset": 492,
          "referenceAllele": "C",
          "start": 374,
          "startIntronDirection": "+",
          "startIntronOffset": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000486847.2:c.333+492C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470174.1:n.333+492C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 500,
          "referenceAllele": "C",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000596512.5:n.500C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "referenceAllele": "C",
          "start": 552
        }
      ],
      "hgvs": [
        "ENST00000597961.1:c.553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472710.1:p.Arg185Ter",
        "hgvsWellDefined": "ENSP00000472710.1:p.Arg185_Phe195del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396190"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913195496",
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.3:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Arg188Ter",
        "hgvsWellDefined": "NP_000519.2:p.Arg188_Gly1011delinsProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915993242",
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.1:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Arg188Ter",
        "hgvsWellDefined": "NP_001166969.1:p.Arg188_Gly1010delinsProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.1:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Arg188Ter",
        "hgvsWellDefined": "XP_005259970.1:p.Arg188_Gly1012delinsProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.2:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Arg188Ter",
        "hgvsWellDefined": "XP_005259970.1:p.Arg188_Gly1012delinsProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_024451518.1:c.-457C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307286.1:n.-457C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913195496",
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.4:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Arg188Ter",
        "hgvsWellDefined": "NP_000519.2:p.Arg188_Gly1011delinsProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662473",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.562C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.562C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Arg188Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Arg188Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915993242",
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.2:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Arg188Ter",
        "hgvsWellDefined": "NP_001166969.1:p.Arg188_Gly1010delinsProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713478"
    }
  ],
  "type": "nucleotide"
}