{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573066543",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 463,
          "referenceAllele": "L",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NP_001162.5:p.Leu463His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278659952",
          "hgvs": "NM_001171.6:c.1388T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734747"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=427020[alleleid]",
        "alleleId": 427020,
        "preferredName": "NM_001171.6(ABCC6):c.1388T>A (p.Leu463His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433250",
        "RCV": [
          "RCV000499132",
          "RCV002524112"
        ],
        "variationId": 433250
      }
    ]
  },
  "type": "amino-acid"
}