{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057560143",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 335,
          "referenceAllele": "L",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000491",
      "geneNCBI_id": 27329,
      "geneSymbol": "ANGPTL3",
      "hgvs": [
        "NP_055310.1:p.Leu335Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340605672",
          "hgvs": "NM_014495.4:c.1003T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173766"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3837469[alleleid]",
        "alleleId": 3837469,
        "preferredName": "NM_014495.4(ANGPTL3):c.1003T>A (p.Leu335Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3711787",
        "RCV": [
          "RCV005185627"
        ],
        "variationId": 3711787
      }
    ]
  },
  "type": "amino-acid"
}