{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386301189",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.1538G>A (p.Trp513Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1783797[alleleid]",
        "alleleId": 1783797,
        "preferredName": "NM_024312.5(GNPTAB):c.1538G>A (p.Trp513Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1726270",
        "RCV": [
          "RCV002307241"
        ],
        "variationId": 1726270
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102159943C>T?assembly=hg19",
        "id": "chr12:g.102159943C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101766165C>T?assembly=hg38",
        "id": "chr12:g.101766165C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2547958660",
        "rs": 2547958660
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101766165,
          "referenceAllele": "C",
          "start": 101766164
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101766165C>T",
        "CM000674.2:g.101766165C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102159943,
          "referenceAllele": "C",
          "start": 102159942
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102159943C>T",
        "CM000674.1:g.102159943C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 100684074,
          "referenceAllele": "C",
          "start": 100684073
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100684074C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 69703,
          "referenceAllele": "G",
          "start": 69702
        }
      ],
      "hgvs": [
        "NG_021243.1:g.69703G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1822,
          "referenceAllele": "G",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.1538G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Trp513Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Trp513_Val1256delinsLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1538G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1538G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Trp513Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Trp513Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1801,
          "referenceAllele": "G",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.1538G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Trp513Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Trp513_Val1256delinsLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "referenceAllele": "G",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000552009.1:n.197G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580456950",
      "coordinates": [
        {
          "allele": "A",
          "end": 1730,
          "referenceAllele": "G",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.1538G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Trp513Ter",
        "hgvsWellDefined": "NP_077288.2:p.Trp513_Val1256delinsLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1725,
          "referenceAllele": "G",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.1538G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Trp513Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Trp513_Asp1179delinsLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2271,
          "referenceAllele": "G",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.1457G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Trp486Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Trp486_Val1229delinsLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1681,
          "referenceAllele": "G",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.1538G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Trp513Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Trp513_Asp1179delinsLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1726,
          "referenceAllele": "G",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.1457G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Trp486Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Trp486_Val1229delinsLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1627,
          "referenceAllele": "G",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Trp441Ter",
        "hgvsWellDefined": "XP_016875450.1:p.Trp441_Val1184delinsLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1804,
          "referenceAllele": "G",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:p.Trp104Ter",
        "hgvsWellDefined": "XP_016875451.1:p.Trp104_Val847delinsLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580456950",
      "coordinates": [
        {
          "allele": "A",
          "end": 1822,
          "referenceAllele": "G",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.1538G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Trp513Ter",
        "hgvsWellDefined": "NP_077288.2:p.Trp513_Val1256delinsLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1538G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1538G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Trp513Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Trp513Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}