{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357867036",
  "communityStandardTitle": [
    "NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1313534[alleleid]",
        "alleleId": 1313534,
        "preferredName": "NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1323248",
        "RCV": [
          "RCV001783612"
        ],
        "variationId": 1323248
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.110788903C>A?assembly=hg19",
        "id": "chr4:g.110788903C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.109867747C>A?assembly=hg38",
        "id": "chr4:g.109867747C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2125900955",
        "rs": 2125900955
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 109867747,
          "referenceAllele": "C",
          "start": 109867746
        }
      ],
      "hgvs": [
        "NC_000004.12:g.109867747C>A",
        "CM000666.2:g.109867747C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 110788903,
          "referenceAllele": "C",
          "start": 110788902
        }
      ],
      "hgvs": [
        "NC_000004.11:g.110788903C>A",
        "CM000666.1:g.110788903C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 111008352,
          "referenceAllele": "C",
          "start": 111008351
        }
      ],
      "hgvs": [
        "NC_000004.10:g.111008352C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24564,
          "referenceAllele": "C",
          "start": 24563
        }
      ],
      "hgvs": [
        "NG_033249.1:g.24564C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005491"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024783",
      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
        "ENST00000594814.6:c.696C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469759.1:p.Cys232Ter",
        "hgvsWellDefined": "ENSP00000469759.1:p.Cys232_Cys679delinsSerGluProGluArgLeuThrGlyIleLeuPheGlnArgAlaGluLeuGluHisCysLeuLysProSerValMetThrSerAlaThrLysIleMetSerAlaLeuGlySerAsnValLeuLeuArgCysAspAlaThrGlyPheProThrProGlnIleThrTrpThrArgSerAspSerSerProValAsnTyrThrValIleGlnGluSerProGluGluGlyValArgTrpSerIleMetSerLeuThrGlyIleSerSerLysAspAlaGlyAspTyrLysCysLysAlaLysAsnLeuAlaGlyMetSerGluAlaValValThrValThrValLeuGlyIleThrThrThrProIleProProAspThrSerGluArgThrGlyAspHisProGluTrpAspValGlnProGlySerGlyArgSerThrSerValSerSerAlaSerSerTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761355",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000594814.6:c.696C>A"
          },
          "RefSeq": {
            "hgvs": "NM_198506.5:c.696C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469759.1:p.Cys232Ter"
          },
          "RefSeq": {
            "hgvs": "NP_940908.3:p.Cys232Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024783",
      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
        "ENST00000327908.3:c.147C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328222.3:p.Cys49Ter",
        "hgvsWellDefined": "ENSP00000328222.3:p.Cys49_Cys496delinsSerGluProGluArgLeuThrGlyIleLeuPheGlnArgAlaGluLeuGluHisCysLeuLysProSerValMetThrSerAlaThrLysIleMetSerAlaLeuGlySerAsnValLeuLeuArgCysAspAlaThrGlyPheProThrProGlnIleThrTrpThrArgSerAspSerSerProValAsnTyrThrValIleGlnGluSerProGluGluGlyValArgTrpSerIleMetSerLeuThrGlyIleSerSerLysAspAlaGlyAspTyrLysCysLysAlaLysAsnLeuAlaGlyMetSerGluAlaValValThrValThrValLeuGlyIleThrThrThrProIleProProAspThrSerGluArgThrGlyAspHisProGluTrpAspValGlnProGlySerGlyArgSerThrSerValSerSerAlaSerSerTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024783",
      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
        "ENST00000594814.5:c.696C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469759.1:p.Cys232Ter",
        "hgvsWellDefined": "ENSP00000469759.1:p.Cys232_Cys679delinsSerGluProGluArgLeuThrGlyIleLeuPheGlnArgAlaGluLeuGluHisCysLeuLysProSerValMetThrSerAlaThrLysIleMetSerAlaLeuGlySerAsnValLeuLeuArgCysAspAlaThrGlyPheProThrProGlnIleThrTrpThrArgSerAspSerSerProValAsnTyrThrValIleGlnGluSerProGluGluGlyValArgTrpSerIleMetSerLeuThrGlyIleSerSerLysAspAlaGlyAspTyrLysCysLysAlaLysAsnLeuAlaGlyMetSerGluAlaValValThrValThrValLeuGlyIleThrThrThrProIleProProAspThrSerGluArgThrGlyAspHisProGluTrpAspValGlnProGlySerGlyArgSerThrSerValSerSerAlaSerSerTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573101127",
      "coordinates": [
        {
          "allele": "A",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024783",
      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
        "NM_198506.4:c.696C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_940908.3:p.Cys232Ter",
        "hgvsWellDefined": "NP_940908.3:p.Cys232_Cys679delinsSerGluProGluArgLeuThrGlyIleLeuPheGlnArgAlaGluLeuGluHisCysLeuLysProSerValMetThrSerAlaThrLysIleMetSerAlaLeuGlySerAsnValLeuLeuArgCysAspAlaThrGlyPheProThrProGlnIleThrTrpThrArgSerAspSerSerProValAsnTyrThrValIleGlnGluSerProGluGluGlyValArgTrpSerIleMetSerLeuThrGlyIleSerSerLysAspAlaGlyAspTyrLysCysLysAlaLysAsnLeuAlaGlyMetSerGluAlaValValThrValThrValLeuGlyIleThrThrThrProIleProProAspThrSerGluArgThrGlyAspHisProGluTrpAspValGlnProGlySerGlyArgSerThrSerValSerSerAlaSerSerTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024783",
      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
        "XM_005262979.2:c.147C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263036.1:p.Cys49Ter",
        "hgvsWellDefined": "XP_005263036.1:p.Cys49_Cys496delinsSerGluProGluArgLeuThrGlyIleLeuPheGlnArgAlaGluLeuGluHisCysLeuLysProSerValMetThrSerAlaThrLysIleMetSerAlaLeuGlySerAsnValLeuLeuArgCysAspAlaThrGlyPheProThrProGlnIleThrTrpThrArgSerAspSerSerProValAsnTyrThrValIleGlnGluSerProGluGluGlyValArgTrpSerIleMetSerLeuThrGlyIleSerSerLysAspAlaGlyAspTyrLysCysLysAlaLysAsnLeuAlaGlyMetSerGluAlaValValThrValThrValLeuGlyIleThrThrThrProIleProProAspThrSerGluArgThrGlyAspHisProGluTrpAspValGlnProGlySerGlyArgSerThrSerValSerSerAlaSerSerTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 336,
          "referenceAllele": "C",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024783",
      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
        "XM_017008167.1:c.147C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863656.1:p.Cys49Ter",
        "hgvsWellDefined": "XP_016863656.1:p.Cys49_Cys496delinsSerGluProGluArgLeuThrGlyIleLeuPheGlnArgAlaGluLeuGluHisCysLeuLysProSerValMetThrSerAlaThrLysIleMetSerAlaLeuGlySerAsnValLeuLeuArgCysAspAlaThrGlyPheProThrProGlnIleThrTrpThrArgSerAspSerSerProValAsnTyrThrValIleGlnGluSerProGluGluGlyValArgTrpSerIleMetSerLeuThrGlyIleSerSerLysAspAlaGlyAspTyrLysCysLysAlaLysAsnLeuAlaGlyMetSerGluAlaValValThrValThrValLeuGlyIleThrThrThrProIleProProAspThrSerGluArgThrGlyAspHisProGluTrpAspValGlnProGlySerGlyArgSerThrSerValSerSerAlaSerSerTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573101127",
      "coordinates": [
        {
          "allele": "A",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024783",
      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
        "NM_198506.5:c.696C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_940908.3:p.Cys232Ter",
        "hgvsWellDefined": "NP_940908.3:p.Cys232_Cys679delinsSerGluProGluArgLeuThrGlyIleLeuPheGlnArgAlaGluLeuGluHisCysLeuLysProSerValMetThrSerAlaThrLysIleMetSerAlaLeuGlySerAsnValLeuLeuArgCysAspAlaThrGlyPheProThrProGlnIleThrTrpThrArgSerAspSerSerProValAsnTyrThrValIleGlnGluSerProGluGluGlyValArgTrpSerIleMetSerLeuThrGlyIleSerSerLysAspAlaGlyAspTyrLysCysLysAlaLysAsnLeuAlaGlyMetSerGluAlaValValThrValThrValLeuGlyIleThrThrThrProIleProProAspThrSerGluArgThrGlyAspHisProGluTrpAspValGlnProGlySerGlyArgSerThrSerValSerSerAlaSerSerTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701356",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000594814.6:c.696C>A"
          },
          "RefSeq": {
            "hgvs": "NM_198506.5:c.696C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469759.1:p.Cys232Ter"
          },
          "RefSeq": {
            "hgvs": "NP_940908.3:p.Cys232Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}