{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658804655",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 501,
          "referenceAllele": "Q",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_000255.2:p.Gln501His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA374118368",
          "hgvs": "NM_000264.5:c.1503G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374118369",
          "hgvs": "NM_000264.5:c.1503G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=525159[alleleid]",
        "alleleId": 525159,
        "preferredName": "NM_000264.5(PTCH1):c.1503G>C (p.Gln501His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1334403[alleleid]",
        "alleleId": 1334403,
        "preferredName": "NM_000264.5(PTCH1):c.1503G>T (p.Gln501His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/524588",
        "RCV": [
          "RCV000628424"
        ],
        "variationId": 524588
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1342766",
        "RCV": [
          "RCV001840877",
          "RCV003609195"
        ],
        "variationId": 1342766
      }
    ]
  },
  "type": "amino-acid"
}