{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA361704966",
  "communityStandardTitle": [
    "NM_000112.4(SLC26A2):c.426C>A (p.Tyr142Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3101502[alleleid]",
        "alleleId": 3101502,
        "preferredName": "NM_000112.4(SLC26A2):c.426C>A (p.Tyr142Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2945621",
        "RCV": [
          "RCV003803715"
        ],
        "variationId": 2945621
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149357641C>A?assembly=hg19",
        "id": "chr5:g.149357641C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149978078C>A?assembly=hg38",
        "id": "chr5:g.149978078C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2113695999",
        "rs": 2113695999
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149978078,
          "referenceAllele": "C",
          "start": 149978077
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149978078C>A",
        "CM000667.2:g.149978078C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149357641,
          "referenceAllele": "C",
          "start": 149357640
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149357641C>A",
        "CM000667.1:g.149357641C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149337834,
          "referenceAllele": "C",
          "start": 149337833
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149337834C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19196,
          "referenceAllele": "C",
          "start": 19195
        }
      ],
      "hgvs": [
        "NG_007147.2:g.19196C>A",
        "LRG_684:g.19196C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000500"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000690410.1:n.658C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.5:c.426C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Tyr142Ter",
        "hgvsWellDefined": "ENSP00000286298.4:p.Tyr142_Asp739delinsThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.426C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.426C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Tyr142Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Tyr142Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.4:c.426C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Tyr142Ter",
        "hgvsWellDefined": "ENSP00000286298.4:p.Tyr142_Asp739delinsThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 99,
          "referenceAllele": "C",
          "start": 98
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000503336.1:c.99C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426053.1:p.Tyr33Ter",
        "hgvsWellDefined": "ENSP00000426053.1:p.Tyr33_Gln124delinsThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809412",
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.3:c.426C>A",
        "LRG_684t1:c.426C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Tyr142Ter",
        "hgvsWellDefined": "NP_000103.2:p.Tyr142_Asp739delinsThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 667,
          "referenceAllele": "C",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "XM_017009191.2:c.426C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864680.1:p.Tyr142Ter",
        "hgvsWellDefined": "XP_016864680.1:p.Tyr142_Asp739delinsThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809412",
      "coordinates": [
        {
          "allele": "A",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.4:c.426C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Tyr142Ter",
        "hgvsWellDefined": "NP_000103.2:p.Tyr142_Asp739delinsThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.426C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.426C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Tyr142Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Tyr142Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}