{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1103634",
  "communityStandardTitle": [
    "NM_002016.2(FLG):c.9887C>A (p.Ser3296Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227198[alleleid]",
        "alleleId": 227198,
        "preferredName": "NM_002016.2(FLG):c.9887C>A (p.Ser3296Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225360",
        "RCV": [
          "RCV000490523",
          "RCV000519273"
        ],
        "variationId": 225360
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-152277475-G-T",
        "id": "1-152277475-G-T",
        "variant": "1:152277475 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.152277475G>T?assembly=hg19",
        "id": "chr1:g.152277475G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.152304999G>T?assembly=hg38",
        "id": "chr1:g.152304999G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761212672",
        "rs": 761212672
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152277475-G-T?dataset=gnomad_r2_1",
        "id": "1-152277475-G-T",
        "variant": "1:152277475 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152304999-G-T?dataset=gnomad_r3",
        "id": "1-152304999-G-T",
        "variant": "1:152304999 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152304999-G-T?dataset=gnomad_r4",
        "id": "1-152304999-G-T",
        "variant": "1:152304999 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 152304999,
          "referenceAllele": "G",
          "start": 152304998
        }
      ],
      "hgvs": [
        "NC_000001.11:g.152304999G>T",
        "CM000663.2:g.152304999G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 152277475,
          "referenceAllele": "G",
          "start": 152277474
        }
      ],
      "hgvs": [
        "NC_000001.10:g.152277475G>T",
        "CM000663.1:g.152277475G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 150544099,
          "referenceAllele": "G",
          "start": 150544098
        }
      ],
      "hgvs": [
        "NC_000001.9:g.150544099G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25205,
          "referenceAllele": "C",
          "start": 25204
        }
      ],
      "hgvs": [
        "NG_016190.1:g.25205C>A",
        "LRG_1028:g.25205C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002996"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9959,
          "referenceAllele": "C",
          "start": 9958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "ENST00000368799.2:c.9887C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357789.1:p.Ser3296Ter",
        "hgvsWellDefined": "ENSP00000357789.1:p.Ser3297_Glu4061delinsProGlyGluArgHisGlySerArgHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleProArgGlyGlnAlaSerSerAlaValArgAspSerArgHisTrpGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluGluSerAspThrGlnSerValSerGlyHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerAlaArgAspArgSerGlyGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgThrArgThrSerThrGlyArgArgGlnGlySerHisHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerSerArgArgGlyArgGlnGlySerHisTyrGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArgSerAlaSerArgGlnThrArgAsnAspGluGlnSerGlyAspGlySerArgHisSerTrpSerHisHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGlnSerAlaGlyProArgThrSerArgAsnGlnGlySerSerValSerGlnAspSerAspSerGlnGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSerArgAsnHisArgGlySerAlaGlnGluGlnSerArgAspGlySerArgHisProThrSerHisHisGluAspArgAlaGlyHisGlyHisSerAlaGluSerSerArgGlnSerGlyThrHisHisAlaGluAsnSerSerGlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerThrArgGlyArgSerAlaGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgAlaGlyProSerThrGlyGlyArgGlnGlySerArgHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerArgArgGlyGlyArgGlnGlySerTyrHisGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerHisGlyGlnSerGlySerArgSerAlaSerArgGluThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368799.2:c.9887C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.9887C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Ser3296Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Ser3296Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9923,
          "referenceAllele": "C",
          "start": 9922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "ENST00000368799.1:c.9887C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357789.1:p.Ser3296Ter",
        "hgvsWellDefined": "ENSP00000357789.1:p.Ser3297_Glu4061delinsProGlyGluArgHisGlySerArgHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleProArgGlyGlnAlaSerSerAlaValArgAspSerArgHisTrpGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluGluSerAspThrGlnSerValSerGlyHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerAlaArgAspArgSerGlyGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgThrArgThrSerThrGlyArgArgGlnGlySerHisHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerSerArgArgGlyArgGlnGlySerHisTyrGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArgSerAlaSerArgGlnThrArgAsnAspGluGlnSerGlyAspGlySerArgHisSerTrpSerHisHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGlnSerAlaGlyProArgThrSerArgAsnGlnGlySerSerValSerGlnAspSerAspSerGlnGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSerArgAsnHisArgGlySerAlaGlnGluGlnSerArgAspGlySerArgHisProThrSerHisHisGluAspArgAlaGlyHisGlyHisSerAlaGluSerSerArgGlnSerGlyThrHisHisAlaGluAsnSerSerGlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerThrArgGlyArgSerAlaGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgAlaGlyProSerThrGlyGlyArgGlnGlySerArgHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerArgArgGlyGlyArgGlnGlySerTyrHisGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerHisGlyGlnSerGlySerArgSerAlaSerArgGluThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397042",
      "coordinates": [
        {
          "allele": "A",
          "end": 9923,
          "referenceAllele": "C",
          "start": 9922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "NM_002016.1:c.9887C>A",
        "LRG_1028t1:c.9887C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002007.1:p.Ser3296Ter",
        "hgvsWellDefined": "NP_002007.1:p.Ser3297_Glu4061delinsProGlyGluArgHisGlySerArgHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleProArgGlyGlnAlaSerSerAlaValArgAspSerArgHisTrpGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluGluSerAspThrGlnSerValSerGlyHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerAlaArgAspArgSerGlyGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgThrArgThrSerThrGlyArgArgGlnGlySerHisHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerSerArgArgGlyArgGlnGlySerHisTyrGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArgSerAlaSerArgGlnThrArgAsnAspGluGlnSerGlyAspGlySerArgHisSerTrpSerHisHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGlnSerAlaGlyProArgThrSerArgAsnGlnGlySerSerValSerGlnAspSerAspSerGlnGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSerArgAsnHisArgGlySerAlaGlnGluGlnSerArgAspGlySerArgHisProThrSerHisHisGluAspArgAlaGlyHisGlyHisSerAlaGluSerSerArgGlnSerGlyThrHisHisAlaGluAsnSerSerGlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerThrArgGlyArgSerAlaGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgAlaGlyProSerThrGlyGlyArgGlnGlySerArgHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerArgArgGlyGlyArgGlnGlySerTyrHisGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerHisGlyGlnSerGlySerArgSerAlaSerArgGluThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9198,
          "endIntronDirection": "+",
          "endIntronOffset": 779,
          "referenceAllele": "C",
          "start": 9198,
          "startIntronDirection": "+",
          "startIntronOffset": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "XM_011509329.1:c.9108+779C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507631.1:n.9108+779C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397042",
      "coordinates": [
        {
          "allele": "A",
          "end": 9959,
          "referenceAllele": "C",
          "start": 9958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "NM_002016.2:c.9887C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002007.1:p.Ser3296Ter",
        "hgvsWellDefined": "NP_002007.1:p.Ser3297_Glu4061delinsProGlyGluArgHisGlySerArgHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleProArgGlyGlnAlaSerSerAlaValArgAspSerArgHisTrpGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluGluSerAspThrGlnSerValSerGlyHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerAlaArgAspArgSerGlyGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgThrArgThrSerThrGlyArgArgGlnGlySerHisHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerSerArgArgGlyArgGlnGlySerHisTyrGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArgSerAlaSerArgGlnThrArgAsnAspGluGlnSerGlyAspGlySerArgHisSerTrpSerHisHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGlnSerAlaGlyProArgThrSerArgAsnGlnGlySerSerValSerGlnAspSerAspSerGlnGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSerArgAsnHisArgGlySerAlaGlnGluGlnSerArgAspGlySerArgHisProThrSerHisHisGluAspArgAlaGlyHisGlyHisSerAlaGluSerSerArgGlnSerGlyThrHisHisAlaGluAsnSerSerGlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerThrArgGlyArgSerAlaGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgAlaGlyProSerThrGlyGlyArgGlnGlySerArgHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerArgArgGlyGlyArgGlnGlySerTyrHisGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerHisGlyGlnSerGlySerArgSerAlaSerArgGluThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695431",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368799.2:c.9887C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.9887C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Ser3296Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Ser3296Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}