{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA317053",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 149,
          "referenceAllele": "V",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "NP_005497.1:p.Val149Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA317052",
          "hgvs": "NM_005506.4:c.445G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171132"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201794[alleleid]",
        "alleleId": 201794,
        "preferredName": "NM_005506.4(SCARB2):c.445G>A (p.Val149Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206701",
        "RCV": [
          "RCV000188787",
          "RCV000768072",
          "RCV000725214",
          "RCV001085976",
          "RCV002311280",
          "RCV003907663"
        ],
        "variationId": 206701
      }
    ]
  },
  "type": "amino-acid"
}