{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916009256",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 818,
          "referenceAllele": "P",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NP_001243197.1:p.Pro818His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA249984",
          "hgvs": "NM_001256268.2:c.2453C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159613"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=189857[alleleid]",
        "alleleId": 189857,
        "preferredName": "NM_032578.4(MYPN):c.3335C>A (p.Pro1112His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191757",
        "RCV": [
          "RCV000172079",
          "RCV002478551",
          "RCV004020052"
        ],
        "variationId": 191757
      }
    ]
  },
  "type": "amino-acid"
}