{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA320549",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NP_001265003.1:p.Ala546Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA320547",
          "hgvs": "NM_001278074.1:c.1637C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161525"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210018[alleleid]",
        "alleleId": 210018,
        "preferredName": "NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212937",
        "RCV": [
          "RCV000196128",
          "RCV000408358",
          "RCV000634643",
          "RCV001537856",
          "RCV002315540",
          "RCV003401062"
        ],
        "variationId": 212937
      }
    ]
  },
  "type": "amino-acid"
}