{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA17975257",
  "communityStandardTitle": [
    "NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=894588",
        "active": true,
        "id": "COSM894588"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4873619",
        "active": true,
        "id": "COSM4873619"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513229[alleleid]",
        "alleleId": 513229,
        "preferredName": "NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522696",
        "RCV": [
          "RCV000625848",
          "RCV003465361"
        ],
        "variationId": 522696
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11863020G>A?assembly=hg19",
        "id": "chr1:g.11863020G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11802963G>A?assembly=hg38",
        "id": "chr1:g.11802963G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/986604359",
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    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11802963-G-A?dataset=gnomad_r4",
        "id": "1-11802963-G-A",
        "variant": "1:11802963 G / A"
      }
    ]
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      "chromosome": "1",
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        {
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    },
    {
      "chromosome": "1",
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    {
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      "coordinates": [
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS001205"
    },
    {
      "coordinates": [
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        "LRG_726:g.8141C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS002803"
    }
  ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS751786"
    },
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      "coordinates": [
        {
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          "start": 243
        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS751788",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000376590.9:c.154C>T"
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          "RefSeq": {
            "hgvs": "NM_005957.5:c.154C>T"
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        },
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            "hgvs": "ENSP00000365775.3:p.Arg52Ter"
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          "RefSeq": {
            "hgvs": "NP_005948.3:p.Arg52Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 1603
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
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      "hgvs": [
        "ENST00000431243.6:n.935C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS755354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 420
        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 286,
          "referenceAllele": "C",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
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      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641437.1:n.286C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS766082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
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      "geneSymbol": "MTHFR",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS271234"
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        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271235"
    },
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        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS285202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579896766",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "referenceAllele": "C",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
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      "geneSymbol": "MTHFR",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_005263515.1:p.Arg93Ter",
        "hgvsWellDefined": "XP_005263515.1:p.Arg93_Pro697delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "referenceAllele": "C",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263460.3:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263517.1:p.Arg52Ter",
        "hgvsWellDefined": "XP_005263517.1:p.Arg52_Pro656delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "C",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263461.3:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263518.1:p.Arg52Ter",
        "hgvsWellDefined": "XP_005263518.1:p.Arg52_Pro656delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "referenceAllele": "C",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263462.3:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263519.1:p.Arg52Ter",
        "hgvsWellDefined": "XP_005263519.1:p.Arg52_Pro656delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263463.2:c.-110C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263520.1:n.-110C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1217,
          "referenceAllele": "C",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541495.1:c.274C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539797.1:p.Arg92Ter",
        "hgvsWellDefined": "XP_011539797.1:p.Arg92_Pro696delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "referenceAllele": "C",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541496.1:c.277C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539798.1:p.Arg93Ter",
        "hgvsWellDefined": "XP_011539798.1:p.Arg93_Ser683delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891866185",
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "referenceAllele": "C",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_001330358.1:c.277C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:p.Arg93Ter",
        "hgvsWellDefined": "NP_001317287.1:p.Arg93_Pro697delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263460.5:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263517.1:p.Arg52Ter",
        "hgvsWellDefined": "XP_005263517.1:p.Arg52_Pro656delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "referenceAllele": "C",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263462.4:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263519.1:p.Arg52Ter",
        "hgvsWellDefined": "XP_005263519.1:p.Arg52_Pro656delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263463.4:c.-110C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263520.1:n.-110C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1021,
          "referenceAllele": "C",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541495.3:c.274C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539797.1:p.Arg92Ter",
        "hgvsWellDefined": "XP_011539797.1:p.Arg92_Pro696delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 300,
          "referenceAllele": "C",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541496.3:c.277C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539798.1:p.Arg93Ter",
        "hgvsWellDefined": "XP_011539798.1:p.Arg93_Ser683delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 300,
          "referenceAllele": "C",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_017001328.2:c.277C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856817.1:p.Arg93Ter",
        "hgvsWellDefined": "XP_016856817.1:p.Arg93_Pro647delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_024447198.1:c.-110C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302966.1:n.-110C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1021,
          "referenceAllele": "C",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XR_002956640.1:n.1021C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579896766",
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.5:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005948.3:p.Arg52Ter",
        "hgvsWellDefined": "NP_005948.3:p.Arg52_Pro656delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376590.9:c.154C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005957.5:c.154C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365775.3:p.Arg52Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005948.3:p.Arg52Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA891866185",
      "coordinates": [
        {
          "allele": "T",
          "end": 300,
          "referenceAllele": "C",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_001330358.2:c.277C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:p.Arg93Ter",
        "hgvsWellDefined": "NP_001317287.1:p.Arg93_Pro697delinsLeuGluSerGlyAspLysTrpPheSerLeuGluPhePheProProArgThrAlaGluGlyAlaValAsnLeuIleSerArgPheAspArgMetAlaAlaGlyGlyProLeuTyrIleAspValThrTrpHisProAlaGlyAspProGlySerAspLysGluThrSerSerMetMetIleAlaSerThrAlaValAsnTyrCysGlyLeuGluThrIleLeuHisMetThrCysCysArgGlnArgLeuGluGluIleThrGlyHisLeuHisLysAlaLysGlnLeuGlyLeuLysAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718659"
    }
  ],
  "type": "nucleotide"
}