{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341741",
  "communityStandardTitle": [
    "NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3801026",
        "active": true,
        "id": "COSM3801026"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5832218",
        "active": true,
        "id": "COSM5832218"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34067[alleleid]",
        "alleleId": 34067,
        "preferredName": "NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21215",
        "RCV": [
          "RCV000020376",
          "RCV000723818"
        ],
        "variationId": 21215
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-100350168-C-T",
        "id": "1-100350168-C-T",
        "variant": "1:100350168 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100350168C>T?assembly=hg19",
        "id": "chr1:g.100350168C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.99884612C>T?assembly=hg38",
        "id": "chr1:g.99884612C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994130",
        "rs": 113994130
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100350168-C-T?dataset=gnomad_r2_1",
        "id": "1-100350168-C-T",
        "variant": "1:100350168 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-99884612-C-T?dataset=gnomad_r3",
        "id": "1-99884612-C-T",
        "variant": "1:99884612 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-99884612-C-T?dataset=gnomad_r4",
        "id": "1-99884612-C-T",
        "variant": "1:99884612 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 99884612,
          "referenceAllele": "C",
          "start": 99884611
        }
      ],
      "hgvs": [
        "NC_000001.11:g.99884612C>T",
        "CM000663.2:g.99884612C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 100350168,
          "referenceAllele": "C",
          "start": 100350167
        }
      ],
      "hgvs": [
        "NC_000001.10:g.100350168C>T",
        "CM000663.1:g.100350168C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 100122756,
          "referenceAllele": "C",
          "start": 100122755
        }
      ],
      "hgvs": [
        "NC_000001.9:g.100122756C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39529,
          "referenceAllele": "C",
          "start": 39528
        }
      ],
      "hgvs": [
        "NG_012865.1:g.39529C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002592"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "referenceAllele": "C",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361915.8:c.2590C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355106.3:p.Arg864Ter",
        "hgvsWellDefined": "ENSP00000355106.3:p.Arg864_Leu1532delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361915.8:c.2590C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000642.3:c.2590C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355106.3:p.Arg864Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000633.2:p.Arg864Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2801,
          "referenceAllele": "C",
          "start": 2800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000637337.1:n.2801C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3068,
          "referenceAllele": "C",
          "start": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000294724.8:c.2590C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294724.4:p.Arg864Ter",
        "hgvsWellDefined": "ENSP00000294724.4:p.Arg864_Leu1532delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2801,
          "referenceAllele": "C",
          "start": 2800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361302.7:c.2542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354971.3:p.Arg848Ter",
        "hgvsWellDefined": "ENSP00000354971.3:p.Arg848_Leu1516delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2801,
          "referenceAllele": "C",
          "start": 2800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361522.4:c.2539C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354635.4:p.Arg847Ter",
        "hgvsWellDefined": "ENSP00000354635.4:p.Arg847_Leu1515delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2990,
          "referenceAllele": "C",
          "start": 2989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361915.7:c.2590C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355106.3:p.Arg864Ter",
        "hgvsWellDefined": "ENSP00000355106.3:p.Arg864_Leu1532delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2542,
          "referenceAllele": "C",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370161.6:c.2542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359180.2:p.Arg848Ter",
        "hgvsWellDefined": "ENSP00000359180.2:p.Arg848_Leu1516delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2788,
          "referenceAllele": "C",
          "start": 2787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370163.7:c.2590C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359182.3:p.Arg864Ter",
        "hgvsWellDefined": "ENSP00000359182.3:p.Arg864_Leu1532delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2728,
          "referenceAllele": "C",
          "start": 2727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370165.7:c.2590C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359184.3:p.Arg864Ter",
        "hgvsWellDefined": "ENSP00000359184.3:p.Arg864_Leu1532delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825006857",
      "coordinates": [
        {
          "allele": "T",
          "end": 3068,
          "referenceAllele": "C",
          "start": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000028.2:c.2590C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000019.2:p.Arg864Ter",
        "hgvsWellDefined": "NP_000019.2:p.Arg864_Leu1532delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341742",
      "coordinates": [
        {
          "allele": "T",
          "end": 2990,
          "referenceAllele": "C",
          "start": 2989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000642.2:c.2590C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000633.2:p.Arg864Ter",
        "hgvsWellDefined": "NP_000633.2:p.Arg864_Leu1532delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825223395",
      "coordinates": [
        {
          "allele": "T",
          "end": 2788,
          "referenceAllele": "C",
          "start": 2787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000643.2:c.2590C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000634.2:p.Arg864Ter",
        "hgvsWellDefined": "NP_000634.2:p.Arg864_Leu1532delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006694"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915963177",
      "coordinates": [
        {
          "allele": "T",
          "end": 2728,
          "referenceAllele": "C",
          "start": 2727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000644.2:c.2590C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000635.2:p.Arg864Ter",
        "hgvsWellDefined": "NP_000635.2:p.Arg864_Leu1532delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2801,
          "referenceAllele": "C",
          "start": 2800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000645.2:c.2539C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000636.2:p.Arg847Ter",
        "hgvsWellDefined": "NP_000636.2:p.Arg847_Leu1515delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825233233",
      "coordinates": [
        {
          "allele": "T",
          "end": 2801,
          "referenceAllele": "C",
          "start": 2800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000646.2:c.2542C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000637.2:p.Arg848Ter",
        "hgvsWellDefined": "NP_000637.2:p.Arg848_Leu1516delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2683,
          "referenceAllele": "C",
          "start": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_005270557.1:c.2590C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270614.1:p.Arg864Ter",
        "hgvsWellDefined": "XP_005270614.1:p.Arg864_Leu1532delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2683,
          "referenceAllele": "C",
          "start": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_005270557.2:c.2590C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270614.1:p.Arg864Ter",
        "hgvsWellDefined": "XP_005270614.1:p.Arg864_Leu1532delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_017000501.2:c.850C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855990.1:p.Arg284Ter",
        "hgvsWellDefined": "XP_016855990.1:p.Arg284_Leu952delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341742",
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "referenceAllele": "C",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000642.3:c.2590C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000633.2:p.Arg864Ter",
        "hgvsWellDefined": "NP_000633.2:p.Arg864_Leu1532delinsAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361915.8:c.2590C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000642.3:c.2590C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355106.3:p.Arg864Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000633.2:p.Arg864Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}