{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386296216",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.2849C>A (p.Ser950Ter)"
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  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2128714[alleleid]",
        "alleleId": 2128714,
        "preferredName": "NM_024312.5(GNPTAB):c.2849C>A (p.Ser950Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2066029",
        "RCV": [
          "RCV002948866"
        ],
        "variationId": 2066029
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102155408G>T?assembly=hg19",
        "id": "chr12:g.102155408G>T"
      }
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        "@id": "http://myvariant.info/v1/variant/chr12:g.101761630G>T?assembly=hg38",
        "id": "chr12:g.101761630G>T"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1020172077",
        "rs": 1020172077
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    ]
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "12",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
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    },
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    },
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
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          "referenceAllele": "C",
          "start": 2991
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      ],
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580457228",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Ser950Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Ser950Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}