{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139719627",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 580,
          "referenceAllele": "V",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NP_002326.2:p.Val580Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6149420",
          "hgvs": "NM_002335.4:c.1738G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168192"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=838894[alleleid]",
        "alleleId": 838894,
        "preferredName": "NM_002335.4(LRP5):c.1738G>A (p.Val580Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/841665",
        "RCV": [
          "RCV001043932",
          "RCV002276599"
        ],
        "variationId": 841665
      }
    ]
  },
  "type": "amino-acid"
}