{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830387341",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 111,
          "referenceAllele": "H",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NP_851828.1:p.His111Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA178074",
          "hgvs": "NM_181311.4:c.331C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184189"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=176911[alleleid]",
        "alleleId": 176911,
        "preferredName": "NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/165328",
        "RCV": [
          "RCV000151966",
          "RCV000705533",
          "RCV001719939",
          "RCV002460933"
        ],
        "variationId": 165328
      }
    ]
  },
  "type": "amino-acid"
}