{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825464153",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 129,
          "referenceAllele": "M",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NP_001073590.1:p.Met129Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123088",
          "hgvs": "NM_001080121.1:c.385A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2573157041",
          "hgvs": "NM_001080121.1:c.384_385delinsTG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150607"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28436[alleleid]",
        "alleleId": 28436,
        "preferredName": "NM_000311.5(PRNP):c.385A>G (p.Met129Val)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1643048[alleleid]",
        "alleleId": 1643048,
        "preferredName": "NM_000311.5(PRNP):c.384_385inv (p.Met129Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13397",
        "RCV": [
          "RCV000014331",
          "RCV000020244",
          "RCV000014332",
          "RCV000014333",
          "RCV000118064",
          "RCV000990275",
          "RCV001262968",
          "RCV001723566",
          "RCV002490365",
          "RCV003450639",
          "RCV003313921"
        ],
        "variationId": 13397
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1562637",
        "RCV": [
          "RCV002204940"
        ],
        "variationId": 1562637
      }
    ]
  },
  "type": "amino-acid"
}