{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825151047",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 128,
          "referenceAllele": "F",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NP_000379.3:p.Phe128Leu"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA119489",
          "hgvs": "NM_000388.4:c.382T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA354362784",
          "hgvs": "NM_000388.4:c.384C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA354362785",
          "hgvs": "NM_000388.4:c.384C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710469"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23364[alleleid]",
        "alleleId": 23364,
        "preferredName": "NM_000388.4(CASR):c.382T>C (p.Phe128Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=511450[alleleid]",
        "alleleId": 511450,
        "preferredName": "NM_000388.4(CASR):c.384C>A (p.Phe128Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1445112[alleleid]",
        "alleleId": 1445112,
        "preferredName": "NM_000388.4(CASR):c.384C>G (p.Phe128Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8325",
        "RCV": [
          "RCV000008827"
        ],
        "variationId": 8325
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/521689",
        "RCV": [
          "RCV000623375"
        ],
        "variationId": 521689
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1454775",
        "RCV": [
          "RCV001939580",
          "RCV004044367"
        ],
        "variationId": 1454775
      }
    ]
  },
  "type": "amino-acid"
}