{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386301319",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.1479G>A (p.Trp493Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1781977[alleleid]",
        "alleleId": 1781977,
        "preferredName": "NM_024312.5(GNPTAB):c.1479G>A (p.Trp493Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1724450",
        "RCV": [
          "RCV002309718"
        ],
        "variationId": 1724450
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102160002C>T?assembly=hg19",
        "id": "chr12:g.102160002C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101766224C>T?assembly=hg38",
        "id": "chr12:g.101766224C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2547958737",
        "rs": 2547958737
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101766224,
          "referenceAllele": "C",
          "start": 101766223
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101766224C>T",
        "CM000674.2:g.101766224C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102160002,
          "referenceAllele": "C",
          "start": 102160001
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102160002C>T",
        "CM000674.1:g.102160002C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 100684133,
          "referenceAllele": "C",
          "start": 100684132
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100684133C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 69644,
          "referenceAllele": "G",
          "start": 69643
        }
      ],
      "hgvs": [
        "NG_021243.1:g.69644G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1763,
          "referenceAllele": "G",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.1479G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Trp493Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Trp493_Val1256delinsGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1479G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1479G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Trp493Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Trp493Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1742,
          "referenceAllele": "G",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.1479G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Trp493Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Trp493_Val1256delinsGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000552009.1:n.138G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580456937",
      "coordinates": [
        {
          "allele": "A",
          "end": 1671,
          "referenceAllele": "G",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.1479G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Trp493Ter",
        "hgvsWellDefined": "NP_077288.2:p.Trp493_Val1256delinsGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1666,
          "referenceAllele": "G",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.1479G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Trp493Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Trp493_Asp1179delinsGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2212,
          "referenceAllele": "G",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.1398G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Trp466Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Trp466_Val1229delinsGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1622,
          "referenceAllele": "G",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.1479G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Trp493Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Trp493_Asp1179delinsGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1667,
          "referenceAllele": "G",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.1398G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Trp466Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Trp466_Val1229delinsGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1568,
          "referenceAllele": "G",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.1263G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Trp421Ter",
        "hgvsWellDefined": "XP_016875450.1:p.Trp421_Val1184delinsGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.252G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:p.Trp84Ter",
        "hgvsWellDefined": "XP_016875451.1:p.Trp84_Val847delinsGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580456937",
      "coordinates": [
        {
          "allele": "A",
          "end": 1763,
          "referenceAllele": "G",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.1479G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Trp493Ter",
        "hgvsWellDefined": "NP_077288.2:p.Trp493_Val1256delinsGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1479G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1479G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Trp493Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Trp493Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}