{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA362826281",
  "communityStandardTitle": [
    "NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=933247[alleleid]",
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        "preferredName": "NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter)"
      }
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/936263",
        "RCV": [
          "RCV001205027"
        ],
        "variationId": 936263
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.18122096C>A?assembly=hg19",
        "id": "chr6:g.18122096C>A"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr6:g.18121865C>A?assembly=hg38",
        "id": "chr6:g.18121865C>A"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750055958",
        "rs": 750055958
      }
    ]
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      "coordinates": [
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          "end": 18121865,
          "referenceAllele": "C",
          "start": 18121864
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
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          "end": 18122096,
          "referenceAllele": "C",
          "start": 18122095
        }
      ],
      "hgvs": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
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          "start": 18230074
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "G",
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        }
      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS003275"
    }
  ],
  "transcriptAlleles": [
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        {
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          "end": 813,
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      ],
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      "geneNCBI_id": 378884,
      "geneSymbol": "NHLRC1",
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747922",
      "MANE": {
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        "maneStatus": "MANE Select",
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          },
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          }
        },
        "protein": {
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          }
        }
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    {
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          "end": 742,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139767731",
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      "geneNCBI_id": 378884,
      "geneSymbol": "NHLRC1",
      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139767731",
      "coordinates": [
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          "end": 813,
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      "geneSymbol": "NHLRC1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_940988.2:p.Glu248_Gly395delinsGlyValLeuArgArgThrGluArgLeuGlnAlaHisLeuCysAsnProArgGlyValAlaValSerTrpLeuThrGlyAlaIleAlaValLeuGluHisProLeuAlaLeuGlyThrGlyValCysSerThrArgValLysValPheSerSerSerMetGlnLeuValGlyGlnValAspThrPheGlyLeuSerLeuTyrPheProSerLysIleThrAlaSerAlaValThrPheAspHisGlnGlyAsnValIleValAlaAspThrSerGlyProAlaIleLeuCysLeuGlyLysProGluGluPheProValProLysProMetValThrHisGlyLeuSerHisProValAlaLeuThrPheThrLysGluAsnSerLeuLeuValLeuAspThrAlaSerHisSerIleLysValTyrLysValAspTrpGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701375",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_198586.3:c.742G>T"
          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_940988.2:p.Glu248Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}