{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA334026",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1229,
          "referenceAllele": "D",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NP_078853.2:p.Asp1229Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA334024",
          "hgvs": "NM_024577.4:c.3686A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178362"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186051[alleleid]",
        "alleleId": 186051,
        "preferredName": "NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188089",
        "RCV": [
          "RCV000237055",
          "RCV000713265",
          "RCV001082893",
          "RCV000789576",
          "RCV000987610",
          "RCV001157181",
          "RCV002453563",
          "RCV004535140"
        ],
        "variationId": 188089
      }
    ]
  },
  "type": "amino-acid"
}