{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645478220",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 83,
          "referenceAllele": "G",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004807",
      "geneNCBI_id": 9421,
      "geneSymbol": "HAND1",
      "hgvs": [
        "NP_004812.1:p.Gly83Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3526593",
          "hgvs": "NM_004821.3:c.247G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170505"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=246979[alleleid]",
        "alleleId": 246979,
        "preferredName": "NM_004821.3(HAND1):c.247G>T (p.Gly83Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/252637",
        "RCV": [
          "RCV000238645",
          "RCV000473290",
          "RCV001701712",
          "RCV003955394"
        ],
        "variationId": 252637
      }
    ]
  },
  "type": "amino-acid"
}