{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827467341",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 667,
          "referenceAllele": "M",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NP_001336829.1:p.Met667Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10163144",
          "hgvs": "NM_001349900.2:c.2001G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA411023724",
          "hgvs": "NM_001349900.2:c.2001G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA411023726",
          "hgvs": "NM_001349900.2:c.2001G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625300"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=891001[alleleid]",
        "alleleId": 891001,
        "preferredName": "NM_022081.6(HPS4):c.1947G>A (p.Met649Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/901535",
        "RCV": [
          "RCV001147481",
          "RCV001520036"
        ],
        "variationId": 901535
      }
    ]
  },
  "type": "amino-acid"
}