{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA149509",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1262,
          "referenceAllele": "A",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NP_619639.3:p.Ala1262Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA149508",
          "hgvs": "NM_138694.3:c.3785C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181340"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=102293[alleleid]",
        "alleleId": 102293,
        "preferredName": "NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96399",
        "RCV": [
          "RCV000082549",
          "RCV000282648",
          "RCV001291850",
          "RCV001530435",
          "RCV001705799"
        ],
        "variationId": 96399
      }
    ]
  },
  "type": "amino-acid"
}