{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA869022058",
  "communityStandardTitle": [
    "NM_004473.4(FOXE1):c.532_537dup (p.Ala178_Ala179dup)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3218285[alleleid]",
        "alleleId": 3218285,
        "preferredName": "NM_004473.4(FOXE1):c.505GCC[13] (p.Ala179_Ile180insAlaAla)"
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3061679",
        "RCV": [
          "RCV003983687"
        ],
        "variationId": 3061679
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.100616700_100616701insGCCGCC?assembly=hg19",
        "id": "chr9:g.100616700_100616701insGCCGCC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.97854418_97854419insGCCGCC?assembly=hg38",
        "id": "chr9:g.97854418_97854419insGCCGCC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/71369530",
        "rs": 71369530
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-97854418-A-AGCCGCC?dataset=gnomad_r3",
        "id": "9-97854418-A-AGCCGCC",
        "variant": "9:97854418 A / AGCCGCC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-97854418-A-AGCCGCC?dataset=gnomad_r4",
        "id": "9-97854418-A-AGCCGCC",
        "variant": "9:97854418 A / AGCCGCC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "GCCGCC",
          "end": 97854451,
          "referenceAllele": "",
          "start": 97854451
        }
      ],
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        "CM000671.2:g.97854446_97854451dup"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "GCCGCC",
          "end": 100616733,
          "referenceAllele": "",
          "start": 100616733
        }
      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "GCCGCC",
          "end": 99656554,
          "referenceAllele": "",
          "start": 99656554
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "GCCGCC",
          "end": 6197,
          "referenceAllele": "",
          "start": 6197
        }
      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS002083"
    }
  ],
  "transcriptAlleles": [
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          "end": 1226,
          "referenceAllele": "",
          "start": 1226
        }
      ],
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      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
      "hgvs": [
        "ENST00000375123.5:c.532_537dup"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000364265.3:p.Ala178_Ala179dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751562",
      "MANE": {
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        "maneStatus": "MANE Select",
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          }
        }
      }
    },
    {
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          "referenceAllele": "",
          "start": 1198
        }
      ],
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      "geneNCBI_id": 2304,
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000364265.3:p.Ala178_Ala179dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741911986",
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        {
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          "end": 1197,
          "referenceAllele": "",
          "start": 1197
        }
      ],
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      "geneSymbol": "FOXE1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS029634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741911986",
      "coordinates": [
        {
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          "referenceAllele": "",
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      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_004464.2:p.Ala178_Ala179dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696148",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_004473.4:c.532_537dup"
          }
        },
        "protein": {
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          "RefSeq": {
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        }
      }
    }
  ],
  "type": "nucleotide"
}