{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA124428",
  "communityStandardTitle": [
    "NM_002448.3(MSX1):c.623C>A (p.Ser208Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29921[alleleid]",
        "alleleId": 29921,
        "preferredName": "NM_002448.3(MSX1):c.623C>A (p.Ser208Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14882",
        "RCV": [
          "RCV000016011",
          "RCV004532364"
        ],
        "variationId": 14882
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.4864581C>A?assembly=hg19",
        "id": "chr4:g.4864581C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.4862854C>A?assembly=hg38",
        "id": "chr4:g.4862854C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893853",
        "rs": 104893853
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-4862854-C-A?dataset=gnomad_r4",
        "id": "4-4862854-C-A",
        "variant": "4:4862854 C / A"
      }
    ]
  },
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    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 4862854,
          "referenceAllele": "C",
          "start": 4862853
        }
      ],
      "hgvs": [
        "NC_000004.12:g.4862854C>A",
        "CM000666.2:g.4862854C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 4864581,
          "referenceAllele": "C",
          "start": 4864580
        }
      ],
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        "NC_000004.11:g.4864581C>A",
        "CM000666.1:g.4864581C>A"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
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          "end": 4915482,
          "referenceAllele": "C",
          "start": 4915481
        }
      ],
      "hgvs": [
        "NC_000004.10:g.4915482C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8190,
          "referenceAllele": "C",
          "start": 8189
        }
      ],
      "hgvs": [
        "NG_008121.1:g.8190C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000866"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007391",
      "geneNCBI_id": 4487,
      "geneSymbol": "MSX1",
      "hgvs": [
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      ],
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        "hgvsWellDefined": "ENSP00000372170.4:p.Ser208_Thr303delinsLeuSerLeuThrGluThrGlnValLysIleTrpPheGlnAsnArgArgAlaLysAlaLysArgLeuGlnGluAlaGluLeuGluLysLeuLysMetAlaAlaLysProMetLeuProProAlaAlaPheGlyLeuSerPheProLeuGlyGlyProAlaAlaValAlaAlaAlaAlaGlyAlaSerLeuTyrGlyAlaSerGlyProPheGlnArgAlaAlaLeuProValAlaProValGlyLeuTyrThrAlaHisValGlyTyrSerMetTyrHisLeuThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
            "hgvs": "NM_002448.3:c.623C>A"
          }
        },
        "protein": {
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          },
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            "hgvs": "NP_002439.2:p.Ser208Ter"
          }
        }
      }
    },
    {
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          "end": 857,
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      "geneNCBI_id": 4487,
      "geneSymbol": "MSX1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000372170.4:p.Ser208Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273836"
    },
    {
      "coordinates": [
        {
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          "end": 335,
          "referenceAllele": "C",
          "start": 334
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      "gene": "http://reg.genome.network/gene/GN007391",
      "geneNCBI_id": 4487,
      "geneSymbol": "MSX1",
      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124429",
      "coordinates": [
        {
          "allele": "A",
          "end": 858,
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        }
      ],
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      "geneNCBI_id": 4487,
      "geneSymbol": "MSX1",
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        "hgvsWellDefined": "NP_002439.2:p.Ser208_Thr303delinsLeuSerLeuThrGluThrGlnValLysIleTrpPheGlnAsnArgArgAlaLysAlaLysArgLeuGlnGluAlaGluLeuGluLysLeuLysMetAlaAlaLysProMetLeuProProAlaAlaPheGlyLeuSerPheProLeuGlyGlyProAlaAlaValAlaAlaAlaAlaGlyAlaSerLeuTyrGlyAlaSerGlyProPheGlnArgAlaAlaLeuProValAlaProValGlyLeuTyrThrAlaHisValGlyTyrSerMetTyrHisLeuThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027753",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372170.4:p.Ser208Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002439.2:p.Ser208Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}