{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139717963",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 39,
          "referenceAllele": "P",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "NP_002307.2:p.Pro39Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5242214",
          "hgvs": "NM_002316.4:c.115C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168185"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=962164[alleleid]",
        "alleleId": 962164,
        "preferredName": "NM_001174147.2(LMX1B):c.115C>T (p.Pro39Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/973862",
        "RCV": [
          "RCV001250525",
          "RCV003373088"
        ],
        "variationId": 973862
      }
    ]
  },
  "type": "amino-acid"
}