{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341323283",
  "communityStandardTitle": [
    "NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=952585[alleleid]",
        "alleleId": 952585,
        "preferredName": "NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/967306",
        "RCV": [
          "RCV001242186"
        ],
        "variationId": 967306
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100353651T>G?assembly=hg19",
        "id": "chr1:g.100353651T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.99888095T>G?assembly=hg38",
        "id": "chr1:g.99888095T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767529587",
        "rs": 767529587
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 99888095,
          "referenceAllele": "T",
          "start": 99888094
        }
      ],
      "hgvs": [
        "NC_000001.11:g.99888095T>G",
        "CM000663.2:g.99888095T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 100353651,
          "referenceAllele": "T",
          "start": 100353650
        }
      ],
      "hgvs": [
        "NC_000001.10:g.100353651T>G",
        "CM000663.1:g.100353651T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 100126239,
          "referenceAllele": "T",
          "start": 100126238
        }
      ],
      "hgvs": [
        "NC_000001.9:g.100126239T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43012,
          "referenceAllele": "T",
          "start": 43011
        }
      ],
      "hgvs": [
        "NG_012865.1:g.43012T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002592"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2922,
          "referenceAllele": "T",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361915.8:c.2799T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355106.3:p.Tyr933Ter",
        "hgvsWellDefined": "ENSP00000355106.3:p.Tyr933_Leu1532delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361915.8:c.2799T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000642.3:c.2799T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355106.3:p.Tyr933Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000633.2:p.Tyr933Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3010,
          "referenceAllele": "T",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000637337.1:n.3010T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3277,
          "referenceAllele": "T",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000294724.8:c.2799T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294724.4:p.Tyr933Ter",
        "hgvsWellDefined": "ENSP00000294724.4:p.Tyr933_Leu1532delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3010,
          "referenceAllele": "T",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361302.7:c.2751T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354971.3:p.Tyr917Ter",
        "hgvsWellDefined": "ENSP00000354971.3:p.Tyr917_Leu1516delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3010,
          "referenceAllele": "T",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361522.4:c.2748T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354635.4:p.Tyr916Ter",
        "hgvsWellDefined": "ENSP00000354635.4:p.Tyr916_Leu1515delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3199,
          "referenceAllele": "T",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361915.7:c.2799T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355106.3:p.Tyr933Ter",
        "hgvsWellDefined": "ENSP00000355106.3:p.Tyr933_Leu1532delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2751,
          "referenceAllele": "T",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370161.6:c.2751T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359180.2:p.Tyr917Ter",
        "hgvsWellDefined": "ENSP00000359180.2:p.Tyr917_Leu1516delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2997,
          "referenceAllele": "T",
          "start": 2996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370163.7:c.2799T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359182.3:p.Tyr933Ter",
        "hgvsWellDefined": "ENSP00000359182.3:p.Tyr933_Leu1532delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2937,
          "referenceAllele": "T",
          "start": 2936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370165.7:c.2799T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359184.3:p.Tyr933Ter",
        "hgvsWellDefined": "ENSP00000359184.3:p.Tyr933_Leu1532delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825006924",
      "coordinates": [
        {
          "allele": "G",
          "end": 3277,
          "referenceAllele": "T",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000028.2:c.2799T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000019.2:p.Tyr933Ter",
        "hgvsWellDefined": "NP_000019.2:p.Tyr933_Leu1532delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825218157",
      "coordinates": [
        {
          "allele": "G",
          "end": 3199,
          "referenceAllele": "T",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000642.2:c.2799T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000633.2:p.Tyr933Ter",
        "hgvsWellDefined": "NP_000633.2:p.Tyr933_Leu1532delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825223547",
      "coordinates": [
        {
          "allele": "G",
          "end": 2997,
          "referenceAllele": "T",
          "start": 2996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000643.2:c.2799T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000634.2:p.Tyr933Ter",
        "hgvsWellDefined": "NP_000634.2:p.Tyr933_Leu1532delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006694"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139675701",
      "coordinates": [
        {
          "allele": "G",
          "end": 2937,
          "referenceAllele": "T",
          "start": 2936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000644.2:c.2799T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000635.2:p.Tyr933Ter",
        "hgvsWellDefined": "NP_000635.2:p.Tyr933_Leu1532delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3010,
          "referenceAllele": "T",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000645.2:c.2748T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000636.2:p.Tyr916Ter",
        "hgvsWellDefined": "NP_000636.2:p.Tyr916_Leu1515delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825233414",
      "coordinates": [
        {
          "allele": "G",
          "end": 3010,
          "referenceAllele": "T",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000646.2:c.2751T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000637.2:p.Tyr917Ter",
        "hgvsWellDefined": "NP_000637.2:p.Tyr917_Leu1516delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006697"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2892,
          "referenceAllele": "T",
          "start": 2891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_005270557.1:c.2799T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270614.1:p.Tyr933Ter",
        "hgvsWellDefined": "XP_005270614.1:p.Tyr933_Leu1532delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2892,
          "referenceAllele": "T",
          "start": 2891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_005270557.2:c.2799T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270614.1:p.Tyr933Ter",
        "hgvsWellDefined": "XP_005270614.1:p.Tyr933_Leu1532delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "T",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_017000501.2:c.1059T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855990.1:p.Tyr353Ter",
        "hgvsWellDefined": "XP_016855990.1:p.Tyr353_Leu952delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825218157",
      "coordinates": [
        {
          "allele": "G",
          "end": 2922,
          "referenceAllele": "T",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000642.3:c.2799T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000633.2:p.Tyr933Ter",
        "hgvsWellDefined": "NP_000633.2:p.Tyr933_Leu1532delinsAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361915.8:c.2799T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000642.3:c.2799T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355106.3:p.Tyr933Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000633.2:p.Tyr933Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}