{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA270946",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1184,
          "referenceAllele": "M",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NP_078853.2:p.Met1184Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA270944",
          "hgvs": "NM_024577.4:c.3550A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178362"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=167394[alleleid]",
        "alleleId": 167394,
        "preferredName": "NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/157532",
        "RCV": [
          "RCV000144878",
          "RCV000403900",
          "RCV000465654",
          "RCV000488069",
          "RCV001094974",
          "RCV002453463"
        ],
        "variationId": 157532
      }
    ]
  },
  "type": "amino-acid"
}