{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645375728",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 231,
          "referenceAllele": "Y",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "NP_077282.3:p.Tyr231His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10583427",
          "hgvs": "NM_024306.5:c.691T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178243"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=242497[alleleid]",
        "alleleId": 242497,
        "preferredName": "NM_024306.5(FA2H):c.691T>C (p.Tyr231His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/241464",
        "RCV": [
          "RCV000229293",
          "RCV000522066",
          "RCV001848012",
          "RCV003230464"
        ],
        "variationId": 241464
      }
    ]
  },
  "type": "amino-acid"
}