{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341317847",
  "communityStandardTitle": [
    "NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1782689[alleleid]",
        "alleleId": 1782689,
        "preferredName": "NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1725162",
        "RCV": [
          "RCV002308221"
        ],
        "variationId": 1725162
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100346639C>G?assembly=hg19",
        "id": "chr1:g.100346639C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.99881083C>G?assembly=hg38",
        "id": "chr1:g.99881083C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2524647813",
        "rs": 2524647813
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 99881083,
          "referenceAllele": "C",
          "start": 99881082
        }
      ],
      "hgvs": [
        "NC_000001.11:g.99881083C>G",
        "CM000663.2:g.99881083C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 100346639,
          "referenceAllele": "C",
          "start": 100346638
        }
      ],
      "hgvs": [
        "NC_000001.10:g.100346639C>G",
        "CM000663.1:g.100346639C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 100119227,
          "referenceAllele": "C",
          "start": 100119226
        }
      ],
      "hgvs": [
        "NC_000001.9:g.100119227C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36000,
          "referenceAllele": "C",
          "start": 35999
        }
      ],
      "hgvs": [
        "NG_012865.1:g.36000C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002592"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2030,
          "referenceAllele": "C",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361915.8:c.1907C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355106.3:p.Ser636Ter",
        "hgvsWellDefined": "ENSP00000355106.3:p.Ser636_Leu1532delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361915.8:c.1907C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000642.3:c.1907C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355106.3:p.Ser636Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000633.2:p.Ser636Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2118,
          "referenceAllele": "C",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000637337.1:n.2118C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2385,
          "referenceAllele": "C",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000294724.8:c.1907C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294724.4:p.Ser636Ter",
        "hgvsWellDefined": "ENSP00000294724.4:p.Ser636_Leu1532delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2118,
          "referenceAllele": "C",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361302.7:c.1859C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354971.3:p.Ser620Ter",
        "hgvsWellDefined": "ENSP00000354971.3:p.Ser620_Leu1516delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2118,
          "referenceAllele": "C",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361522.4:c.1856C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354635.4:p.Ser619Ter",
        "hgvsWellDefined": "ENSP00000354635.4:p.Ser619_Leu1515delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2307,
          "referenceAllele": "C",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361915.7:c.1907C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355106.3:p.Ser636Ter",
        "hgvsWellDefined": "ENSP00000355106.3:p.Ser636_Leu1532delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1859,
          "referenceAllele": "C",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370161.6:c.1859C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359180.2:p.Ser620Ter",
        "hgvsWellDefined": "ENSP00000359180.2:p.Ser620_Leu1516delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2105,
          "referenceAllele": "C",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370163.7:c.1907C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359182.3:p.Ser636Ter",
        "hgvsWellDefined": "ENSP00000359182.3:p.Ser636_Leu1532delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370165.7:c.1907C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359184.3:p.Ser636Ter",
        "hgvsWellDefined": "ENSP00000359184.3:p.Ser636_Leu1532delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825006636",
      "coordinates": [
        {
          "allele": "G",
          "end": 2385,
          "referenceAllele": "C",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000028.2:c.1907C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000019.2:p.Ser636Ter",
        "hgvsWellDefined": "NP_000019.2:p.Ser636_Leu1532delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825217053",
      "coordinates": [
        {
          "allele": "G",
          "end": 2307,
          "referenceAllele": "C",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000642.2:c.1907C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000633.2:p.Ser636Ter",
        "hgvsWellDefined": "NP_000633.2:p.Ser636_Leu1532delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825222687",
      "coordinates": [
        {
          "allele": "G",
          "end": 2105,
          "referenceAllele": "C",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000643.2:c.1907C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000634.2:p.Ser636Ter",
        "hgvsWellDefined": "NP_000634.2:p.Ser636_Leu1532delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006694"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580121901",
      "coordinates": [
        {
          "allele": "G",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000644.2:c.1907C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000635.2:p.Ser636Ter",
        "hgvsWellDefined": "NP_000635.2:p.Ser636_Leu1532delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2118,
          "referenceAllele": "C",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000645.2:c.1856C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000636.2:p.Ser619Ter",
        "hgvsWellDefined": "NP_000636.2:p.Ser619_Leu1515delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825232664",
      "coordinates": [
        {
          "allele": "G",
          "end": 2118,
          "referenceAllele": "C",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000646.2:c.1859C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000637.2:p.Ser620Ter",
        "hgvsWellDefined": "NP_000637.2:p.Ser620_Leu1516delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006697"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2000,
          "referenceAllele": "C",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_005270557.1:c.1907C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270614.1:p.Ser636Ter",
        "hgvsWellDefined": "XP_005270614.1:p.Ser636_Leu1532delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2000,
          "referenceAllele": "C",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_005270557.2:c.1907C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270614.1:p.Ser636Ter",
        "hgvsWellDefined": "XP_005270614.1:p.Ser636_Leu1532delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 235,
          "referenceAllele": "C",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_017000501.2:c.167C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855990.1:p.Ser56Ter",
        "hgvsWellDefined": "XP_016855990.1:p.Ser56_Leu952delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825217053",
      "coordinates": [
        {
          "allele": "G",
          "end": 2030,
          "referenceAllele": "C",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000642.3:c.1907C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000633.2:p.Ser636Ter",
        "hgvsWellDefined": "NP_000633.2:p.Ser636_Leu1532delinsAlaTyrAspAlaLeuProSerThrThrIleValSerMetAlaCysCysAlaSerGlySerThrArgGlyTyrAspGluLeuValProHisGlnIleSerValValSerGluGluArgPheTyrThrLysTrpAsnProGluAlaLeuProSerAsnThrGlyGluValAsnPheGlnSerGlyIleIleAlaAlaArgCysAlaIleSerLysLeuHisGlnGluLeuGlyAlaLysGlyPheIleGlnValTyrValAspGlnValAspGluAspIleValAlaValThrArgHisSerProSerIleHisGlnSerValValAlaValSerArgThrAlaPheArgAsnProLysThrSerPheTyrSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361915.8:c.1907C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000642.3:c.1907C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355106.3:p.Ser636Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000633.2:p.Ser636Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}