{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580401764",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 43,
          "referenceAllele": "P",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024206",
      "geneNCBI_id": 55330,
      "geneSymbol": "BLOC1S4",
      "hgvs": [
        "NP_060836.1:p.Pro43Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA356183321",
          "hgvs": "NM_018366.3:c.128C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176212"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2195986[alleleid]",
        "alleleId": 2195986,
        "preferredName": "NM_018366.3(BLOC1S4):c.128C>T (p.Pro43Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2203885",
        "RCV": [
          "RCV004072236"
        ],
        "variationId": 2203885
      }
    ]
  },
  "type": "amino-acid"
}