{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375391400",
  "communityStandardTitle": [
    "NM_001807.6(CEL):c.337C>T (p.Gln113Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1291911[alleleid]",
        "alleleId": 1291911,
        "preferredName": "NM_001807.6(CEL):c.337C>T (p.Gln113Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1301626",
        "RCV": [
          "RCV001733579",
          "RCV002508809"
        ],
        "variationId": 1301626
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135940146C>T?assembly=hg19",
        "id": "chr9:g.135940146C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133064759C>T?assembly=hg38",
        "id": "chr9:g.133064759C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1200339761",
        "rs": 1200339761
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133064759-C-T?dataset=gnomad_r3",
        "id": "9-133064759-C-T",
        "variant": "9:133064759 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133064759-C-T?dataset=gnomad_r4",
        "id": "9-133064759-C-T",
        "variant": "9:133064759 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 133064759,
          "referenceAllele": "C",
          "start": 133064758
        }
      ],
      "hgvs": [
        "NC_000009.12:g.133064759C>T",
        "CM000671.2:g.133064759C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 135940146,
          "referenceAllele": "C",
          "start": 135940145
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135940146C>T",
        "CM000671.1:g.135940146C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 134929967,
          "referenceAllele": "C",
          "start": 134929966
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134929967C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7782,
          "referenceAllele": "C",
          "start": 7781
        }
      ],
      "hgvs": [
        "NG_016394.1:g.7782C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003154"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001848",
      "geneNCBI_id": 1056,
      "geneSymbol": "CEL",
      "hgvs": [
        "ENST00000372080.8:c.337C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361151.6:p.Gln113Ter",
        "hgvsWellDefined": "ENSP00000361151.6:p.Gln113_Phe753delinsValSerArgAspLeuProValMetIleTrpIleTyrGlyGlyAlaPheLeuMetGlySerGlyHisGlyAlaAsnPheLeuAsnAsnTyrLeuTyrAspGlyGluGluIleAlaThrArgGlyAsnValIleValValThrPheAsnTyrArgValGlyProLeuGlyPheLeuSerThrGlyAspAlaAsnLeuProGlyAsnTyrGlyLeuArgAspGlnHisMetAlaIleAlaTrpValLysArgAsnIleAlaAlaPheGlyGlyAspProAsnAsnIleThrLeuPheGlyGluSerAlaGlyGlyAlaSerValSerLeuGlnThrLeuSerProTyrAsnLysGlyLeuIleArgArgAlaIleSerGlnSerGlyValAlaLeuSerProTrpValIleGlnLysAsnProLeuPheTrpAlaLysLysValAlaGluLysValGlyCysProValGlyAspAlaAlaArgMetAlaGlnCysLeuLysValThrAspProArgAlaLeuThrLeuAlaTyrLysValProLeuAlaGlyLeuGluTyrProMetLeuHisTyrValGlyPheValProValIleAspGlyAspPheIleProAlaAspProIleAsnLeuTyrAlaAsnAlaAlaAspIleAspTyrIleAlaGlyThrAsnAsnMetAspGlyHisIlePheAlaSerIleAspMetProAlaIleAsnLysGlyAsnLysLysValThrGluGluAspPheTyrLysLeuValSerGluPheThrIleThrLysGlyLeuArgGlyAlaLysThrThrPheAspValTyrThrGluSerTrpAlaGlnAspProSerGlnGluAsnLysLysLysThrValValAspPheGluThrAspValLeuPheLeuValProThrGluIleAlaLeuAlaGlnHisArgAlaAsnAlaLysSerAlaLysThrTyrAlaTyrLeuPheSerHisProSerArgMetProValTyrProLysTrpValGlyAlaAspHisAlaAspAspIleGlnTyrValPheGlyLysProPheAlaThrProThrGlyTyrArgProGlnAspArgThrValSerLysAlaMetIleAlaTyrTrpThrAsnPheAlaLysThrGlyAspProAsnMetGlyAspSerAlaValProThrHisTrpGluProTyrThrThrGluAsnSerGlyTyrLeuGluIleThrLysLysMetGlySerSerSerMetLysArgSerLeuArgThrAsnPheLeuArgTyrTrpThrLeuThrTyrLeuAlaLeuProThrValThrAspGlnGluAlaThrProValProProThrGlyAspSerGluAlaThrProValProProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspAlaGlyProProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValThrProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGluAlaAlaProValProProThrAspAspSerLysGluAlaGlnMetProAlaValIleArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372080.8:c.337C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001807.6:c.337C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361151.6:p.Gln113Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001798.3:p.Gln113Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "referenceAllele": "C",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001848",
      "geneNCBI_id": 1056,
      "geneSymbol": "CEL",
      "hgvs": [
        "ENST00000372080.6:c.346C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361151.4:p.Gln116Ter",
        "hgvsWellDefined": "ENSP00000361151.4:p.Gln116_Phe756delinsValSerArgAspLeuProValMetIleTrpIleTyrGlyGlyAlaPheLeuMetGlySerGlyHisGlyAlaAsnPheLeuAsnAsnTyrLeuTyrAspGlyGluGluIleAlaThrArgGlyAsnValIleValValThrPheAsnTyrArgValGlyProLeuGlyPheLeuSerThrGlyAspAlaAsnLeuProGlyAsnTyrGlyLeuArgAspGlnHisMetAlaIleAlaTrpValLysArgAsnIleAlaAlaPheGlyGlyAspProAsnAsnIleThrLeuPheGlyGluSerAlaGlyGlyAlaSerValSerLeuGlnThrLeuSerProTyrAsnLysGlyLeuIleArgArgAlaIleSerGlnSerGlyValAlaLeuSerProTrpValIleGlnLysAsnProLeuPheTrpAlaLysLysValAlaGluLysValGlyCysProValGlyAspAlaAlaArgMetAlaGlnCysLeuLysValThrAspProArgAlaLeuThrLeuAlaTyrLysValProLeuAlaGlyLeuGluTyrProMetLeuHisTyrValGlyPheValProValIleAspGlyAspPheIleProAlaAspProIleAsnLeuTyrAlaAsnAlaAlaAspIleAspTyrIleAlaGlyThrAsnAsnMetAspGlyHisIlePheAlaSerIleAspMetProAlaIleAsnLysGlyAsnLysLysValThrGluGluAspPheTyrLysLeuValSerGluPheThrIleThrLysGlyLeuArgGlyAlaLysThrThrPheAspValTyrThrGluSerTrpAlaGlnAspProSerGlnGluAsnLysLysLysThrValValAspPheGluThrAspValLeuPheLeuValProThrGluIleAlaLeuAlaGlnHisArgAlaAsnAlaLysSerAlaLysThrTyrAlaTyrLeuPheSerHisProSerArgMetProValTyrProLysTrpValGlyAlaAspHisAlaAspAspIleGlnTyrValPheGlyLysProPheAlaThrProThrGlyTyrArgProGlnAspArgThrValSerLysAlaMetIleAlaTyrTrpThrAsnPheAlaLysThrGlyAspProAsnMetGlyAspSerAlaValProThrHisTrpGluProTyrThrThrGluAsnSerGlyTyrLeuGluIleThrLysLysMetGlySerSerSerMetLysArgSerLeuArgThrAsnPheLeuArgTyrTrpThrLeuThrTyrLeuAlaLeuProThrValThrAspGlnGluAlaThrProValProProThrGlyAspSerGluAlaThrProValProProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspAlaGlyProProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValThrProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGluAlaAlaProValProProThrAspAspSerLysGluAlaGlnMetProAlaValIleArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "endIntronDirection": "+",
          "endIntronOffset": 2691,
          "referenceAllele": "C",
          "start": 88,
          "startIntronDirection": "+",
          "startIntronOffset": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001848",
      "geneNCBI_id": 1056,
      "geneSymbol": "CEL",
      "hgvs": [
        "ENST00000621209.1:c.75+2691C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480238.1:n.75+2691C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "referenceAllele": "C",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001848",
      "geneNCBI_id": 1056,
      "geneSymbol": "CEL",
      "hgvs": [
        "NM_001807.4:c.346C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001798.2:p.Gln116Ter",
        "hgvsWellDefined": "NP_001798.2:p.Gln116_Phe756delinsValSerArgAspLeuProValMetIleTrpIleTyrGlyGlyAlaPheLeuMetGlySerGlyHisGlyAlaAsnPheLeuAsnAsnTyrLeuTyrAspGlyGluGluIleAlaThrArgGlyAsnValIleValValThrPheAsnTyrArgValGlyProLeuGlyPheLeuSerThrGlyAspAlaAsnLeuProGlyAsnTyrGlyLeuArgAspGlnHisMetAlaIleAlaTrpValLysArgAsnIleAlaAlaPheGlyGlyAspProAsnAsnIleThrLeuPheGlyGluSerAlaGlyGlyAlaSerValSerLeuGlnThrLeuSerProTyrAsnLysGlyLeuIleArgArgAlaIleSerGlnSerGlyValAlaLeuSerProTrpValIleGlnLysAsnProLeuPheTrpAlaLysLysValAlaGluLysValGlyCysProValGlyAspAlaAlaArgMetAlaGlnCysLeuLysValThrAspProArgAlaLeuThrLeuAlaTyrLysValProLeuAlaGlyLeuGluTyrProMetLeuHisTyrValGlyPheValProValIleAspGlyAspPheIleProAlaAspProIleAsnLeuTyrAlaAsnAlaAlaAspIleAspTyrIleAlaGlyThrAsnAsnMetAspGlyHisIlePheAlaSerIleAspMetProAlaIleAsnLysGlyAsnLysLysValThrGluGluAspPheTyrLysLeuValSerGluPheThrIleThrLysGlyLeuArgGlyAlaLysThrThrPheAspValTyrThrGluSerTrpAlaGlnAspProSerGlnGluAsnLysLysLysThrValValAspPheGluThrAspValLeuPheLeuValProThrGluIleAlaLeuAlaGlnHisArgAlaAsnAlaLysSerAlaLysThrTyrAlaTyrLeuPheSerHisProSerArgMetProValTyrProLysTrpValGlyAlaAspHisAlaAspAspIleGlnTyrValPheGlyLysProPheAlaThrProThrGlyTyrArgProGlnAspArgThrValSerLysAlaMetIleAlaTyrTrpThrAsnPheAlaLysThrGlyAspProAsnMetGlyAspSerAlaValProThrHisTrpGluProTyrThrThrGluAsnSerGlyTyrLeuGluIleThrLysLysMetGlySerSerSerMetLysArgSerLeuArgThrAsnPheLeuArgTyrTrpThrLeuThrTyrLeuAlaLeuProThrValThrAspGlnGluAlaThrProValProProThrGlyAspSerGluAlaThrProValProProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspAlaGlyProProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValThrProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGluAlaAlaProValProProThrAspAspSerLysGluAlaGlnMetProAlaValIleArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573080892",
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001848",
      "geneNCBI_id": 1056,
      "geneSymbol": "CEL",
      "hgvs": [
        "NM_001807.5:c.337C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001798.3:p.Gln113Ter",
        "hgvsWellDefined": "NP_001798.3:p.Gln113_Phe753delinsValSerArgAspLeuProValMetIleTrpIleTyrGlyGlyAlaPheLeuMetGlySerGlyHisGlyAlaAsnPheLeuAsnAsnTyrLeuTyrAspGlyGluGluIleAlaThrArgGlyAsnValIleValValThrPheAsnTyrArgValGlyProLeuGlyPheLeuSerThrGlyAspAlaAsnLeuProGlyAsnTyrGlyLeuArgAspGlnHisMetAlaIleAlaTrpValLysArgAsnIleAlaAlaPheGlyGlyAspProAsnAsnIleThrLeuPheGlyGluSerAlaGlyGlyAlaSerValSerLeuGlnThrLeuSerProTyrAsnLysGlyLeuIleArgArgAlaIleSerGlnSerGlyValAlaLeuSerProTrpValIleGlnLysAsnProLeuPheTrpAlaLysLysValAlaGluLysValGlyCysProValGlyAspAlaAlaArgMetAlaGlnCysLeuLysValThrAspProArgAlaLeuThrLeuAlaTyrLysValProLeuAlaGlyLeuGluTyrProMetLeuHisTyrValGlyPheValProValIleAspGlyAspPheIleProAlaAspProIleAsnLeuTyrAlaAsnAlaAlaAspIleAspTyrIleAlaGlyThrAsnAsnMetAspGlyHisIlePheAlaSerIleAspMetProAlaIleAsnLysGlyAsnLysLysValThrGluGluAspPheTyrLysLeuValSerGluPheThrIleThrLysGlyLeuArgGlyAlaLysThrThrPheAspValTyrThrGluSerTrpAlaGlnAspProSerGlnGluAsnLysLysLysThrValValAspPheGluThrAspValLeuPheLeuValProThrGluIleAlaLeuAlaGlnHisArgAlaAsnAlaLysSerAlaLysThrTyrAlaTyrLeuPheSerHisProSerArgMetProValTyrProLysTrpValGlyAlaAspHisAlaAspAspIleGlnTyrValPheGlyLysProPheAlaThrProThrGlyTyrArgProGlnAspArgThrValSerLysAlaMetIleAlaTyrTrpThrAsnPheAlaLysThrGlyAspProAsnMetGlyAspSerAlaValProThrHisTrpGluProTyrThrThrGluAsnSerGlyTyrLeuGluIleThrLysLysMetGlySerSerSerMetLysArgSerLeuArgThrAsnPheLeuArgTyrTrpThrLeuThrTyrLeuAlaLeuProThrValThrAspGlnGluAlaThrProValProProThrGlyAspSerGluAlaThrProValProProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspAlaGlyProProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValThrProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGluAlaAlaProValProProThrAspAspSerLysGluAlaGlnMetProAlaValIleArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573080892",
      "coordinates": [
        {
          "allele": "T",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001848",
      "geneNCBI_id": 1056,
      "geneSymbol": "CEL",
      "hgvs": [
        "NM_001807.6:c.337C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001798.3:p.Gln113Ter",
        "hgvsWellDefined": "NP_001798.3:p.Gln113_Phe753delinsValSerArgAspLeuProValMetIleTrpIleTyrGlyGlyAlaPheLeuMetGlySerGlyHisGlyAlaAsnPheLeuAsnAsnTyrLeuTyrAspGlyGluGluIleAlaThrArgGlyAsnValIleValValThrPheAsnTyrArgValGlyProLeuGlyPheLeuSerThrGlyAspAlaAsnLeuProGlyAsnTyrGlyLeuArgAspGlnHisMetAlaIleAlaTrpValLysArgAsnIleAlaAlaPheGlyGlyAspProAsnAsnIleThrLeuPheGlyGluSerAlaGlyGlyAlaSerValSerLeuGlnThrLeuSerProTyrAsnLysGlyLeuIleArgArgAlaIleSerGlnSerGlyValAlaLeuSerProTrpValIleGlnLysAsnProLeuPheTrpAlaLysLysValAlaGluLysValGlyCysProValGlyAspAlaAlaArgMetAlaGlnCysLeuLysValThrAspProArgAlaLeuThrLeuAlaTyrLysValProLeuAlaGlyLeuGluTyrProMetLeuHisTyrValGlyPheValProValIleAspGlyAspPheIleProAlaAspProIleAsnLeuTyrAlaAsnAlaAlaAspIleAspTyrIleAlaGlyThrAsnAsnMetAspGlyHisIlePheAlaSerIleAspMetProAlaIleAsnLysGlyAsnLysLysValThrGluGluAspPheTyrLysLeuValSerGluPheThrIleThrLysGlyLeuArgGlyAlaLysThrThrPheAspValTyrThrGluSerTrpAlaGlnAspProSerGlnGluAsnLysLysLysThrValValAspPheGluThrAspValLeuPheLeuValProThrGluIleAlaLeuAlaGlnHisArgAlaAsnAlaLysSerAlaLysThrTyrAlaTyrLeuPheSerHisProSerArgMetProValTyrProLysTrpValGlyAlaAspHisAlaAspAspIleGlnTyrValPheGlyLysProPheAlaThrProThrGlyTyrArgProGlnAspArgThrValSerLysAlaMetIleAlaTyrTrpThrAsnPheAlaLysThrGlyAspProAsnMetGlyAspSerAlaValProThrHisTrpGluProTyrThrThrGluAsnSerGlyTyrLeuGluIleThrLysLysMetGlySerSerSerMetLysArgSerLeuArgThrAsnPheLeuArgTyrTrpThrLeuThrTyrLeuAlaLeuProThrValThrAspGlnGluAlaThrProValProProThrGlyAspSerGluAlaThrProValProProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspAlaGlyProProProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGlyAlaProProValThrProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGlyAlaProProValProProThrGlyAspSerGluAlaAlaProValProProThrAspAspSerLysGluAlaGlnMetProAlaValIleArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372080.8:c.337C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001807.6:c.337C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361151.6:p.Gln113Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001798.3:p.Gln113Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}