{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1103615",
  "communityStandardTitle": [
    "NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1158754",
        "active": true,
        "id": "COSM1158754"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=263963[alleleid]",
        "alleleId": 263963,
        "preferredName": "NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/279933",
        "RCV": [
          "RCV000293549",
          "RCV000991154",
          "RCV003137876"
        ],
        "variationId": 279933
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-152277415-G-C",
        "id": "1-152277415-G-C",
        "variant": "1:152277415 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.152277415G>C?assembly=hg19",
        "id": "chr1:g.152277415G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.152304939G>C?assembly=hg38",
        "id": "chr1:g.152304939G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149484917",
        "rs": 149484917
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152277415-G-C?dataset=gnomad_r2_1",
        "id": "1-152277415-G-C",
        "variant": "1:152277415 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152304939-G-C?dataset=gnomad_r3",
        "id": "1-152304939-G-C",
        "variant": "1:152304939 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152304939-G-C?dataset=gnomad_r4",
        "id": "1-152304939-G-C",
        "variant": "1:152304939 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 152304939,
          "referenceAllele": "G",
          "start": 152304938
        }
      ],
      "hgvs": [
        "NC_000001.11:g.152304939G>C",
        "CM000663.2:g.152304939G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 152277415,
          "referenceAllele": "G",
          "start": 152277414
        }
      ],
      "hgvs": [
        "NC_000001.10:g.152277415G>C",
        "CM000663.1:g.152277415G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 150544039,
          "referenceAllele": "G",
          "start": 150544038
        }
      ],
      "hgvs": [
        "NC_000001.9:g.150544039G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 25265,
          "referenceAllele": "C",
          "start": 25264
        }
      ],
      "hgvs": [
        "NG_016190.1:g.25265C>G",
        "LRG_1028:g.25265C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002996"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10019,
          "referenceAllele": "C",
          "start": 10018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "ENST00000368799.2:c.9947C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357789.1:p.Ser3316Ter",
        "hgvsWellDefined": "ENSP00000357789.1:p.Ser3316_Glu4061delinsGlyIleProArgGlyGlnAlaSerSerAlaValArgAspSerArgHisTrpGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluGluSerAspThrGlnSerValSerGlyHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerAlaArgAspArgSerGlyGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgThrArgThrSerThrGlyArgArgGlnGlySerHisHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerSerArgArgGlyArgGlnGlySerHisTyrGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArgSerAlaSerArgGlnThrArgAsnAspGluGlnSerGlyAspGlySerArgHisSerTrpSerHisHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGlnSerAlaGlyProArgThrSerArgAsnGlnGlySerSerValSerGlnAspSerAspSerGlnGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSerArgAsnHisArgGlySerAlaGlnGluGlnSerArgAspGlySerArgHisProThrSerHisHisGluAspArgAlaGlyHisGlyHisSerAlaGluSerSerArgGlnSerGlyThrHisHisAlaGluAsnSerSerGlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerThrArgGlyArgSerAlaGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgAlaGlyProSerThrGlyGlyArgGlnGlySerArgHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerArgArgGlyGlyArgGlnGlySerTyrHisGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerHisGlyGlnSerGlySerArgSerAlaSerArgGluThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368799.2:c.9947C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.9947C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Ser3316Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Ser3316Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9983,
          "referenceAllele": "C",
          "start": 9982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "ENST00000368799.1:c.9947C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357789.1:p.Ser3316Ter",
        "hgvsWellDefined": "ENSP00000357789.1:p.Ser3316_Glu4061delinsGlyIleProArgGlyGlnAlaSerSerAlaValArgAspSerArgHisTrpGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluGluSerAspThrGlnSerValSerGlyHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerAlaArgAspArgSerGlyGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgThrArgThrSerThrGlyArgArgGlnGlySerHisHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerSerArgArgGlyArgGlnGlySerHisTyrGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArgSerAlaSerArgGlnThrArgAsnAspGluGlnSerGlyAspGlySerArgHisSerTrpSerHisHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGlnSerAlaGlyProArgThrSerArgAsnGlnGlySerSerValSerGlnAspSerAspSerGlnGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSerArgAsnHisArgGlySerAlaGlnGluGlnSerArgAspGlySerArgHisProThrSerHisHisGluAspArgAlaGlyHisGlyHisSerAlaGluSerSerArgGlnSerGlyThrHisHisAlaGluAsnSerSerGlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerThrArgGlyArgSerAlaGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgAlaGlyProSerThrGlyGlyArgGlnGlySerArgHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerArgArgGlyGlyArgGlnGlySerTyrHisGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerHisGlyGlnSerGlySerArgSerAlaSerArgGluThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397043",
      "coordinates": [
        {
          "allele": "G",
          "end": 9983,
          "referenceAllele": "C",
          "start": 9982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "NM_002016.1:c.9947C>G",
        "LRG_1028t1:c.9947C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002007.1:p.Ser3316Ter",
        "hgvsWellDefined": "NP_002007.1:p.Ser3316_Glu4061delinsGlyIleProArgGlyGlnAlaSerSerAlaValArgAspSerArgHisTrpGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluGluSerAspThrGlnSerValSerGlyHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerAlaArgAspArgSerGlyGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgThrArgThrSerThrGlyArgArgGlnGlySerHisHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerSerArgArgGlyArgGlnGlySerHisTyrGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArgSerAlaSerArgGlnThrArgAsnAspGluGlnSerGlyAspGlySerArgHisSerTrpSerHisHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGlnSerAlaGlyProArgThrSerArgAsnGlnGlySerSerValSerGlnAspSerAspSerGlnGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSerArgAsnHisArgGlySerAlaGlnGluGlnSerArgAspGlySerArgHisProThrSerHisHisGluAspArgAlaGlyHisGlyHisSerAlaGluSerSerArgGlnSerGlyThrHisHisAlaGluAsnSerSerGlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerThrArgGlyArgSerAlaGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgAlaGlyProSerThrGlyGlyArgGlnGlySerArgHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerArgArgGlyGlyArgGlnGlySerTyrHisGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerHisGlyGlnSerGlySerArgSerAlaSerArgGluThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9198,
          "endIntronDirection": "+",
          "endIntronOffset": 839,
          "referenceAllele": "C",
          "start": 9198,
          "startIntronDirection": "+",
          "startIntronOffset": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "XM_011509329.1:c.9108+839C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507631.1:n.9108+839C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397043",
      "coordinates": [
        {
          "allele": "G",
          "end": 10019,
          "referenceAllele": "C",
          "start": 10018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "NM_002016.2:c.9947C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002007.1:p.Ser3316Ter",
        "hgvsWellDefined": "NP_002007.1:p.Ser3316_Glu4061delinsGlyIleProArgGlyGlnAlaSerSerAlaValArgAspSerArgHisTrpGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluGluSerAspThrGlnSerValSerGlyHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerAlaArgAspArgSerGlyGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgThrArgThrSerThrGlyArgArgGlnGlySerHisHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerSerArgArgGlyArgGlnGlySerHisTyrGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArgSerAlaSerArgGlnThrArgAsnAspGluGlnSerGlyAspGlySerArgHisSerTrpSerHisHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGlnSerAlaGlyProArgThrSerArgAsnGlnGlySerSerValSerGlnAspSerAspSerGlnGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSerArgAsnHisArgGlySerAlaGlnGluGlnSerArgAspGlySerArgHisProThrSerHisHisGluAspArgAlaGlyHisGlyHisSerAlaGluSerSerArgGlnSerGlyThrHisHisAlaGluAsnSerSerGlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerThrArgGlyArgSerAlaGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgAlaGlyProSerThrGlyGlyArgGlnGlySerArgHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerArgArgGlyGlyArgGlnGlySerTyrHisGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerHisGlyGlnSerGlySerArgSerAlaSerArgGluThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695431",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368799.2:c.9947C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.9947C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Ser3316Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Ser3316Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}