{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580597118",
  "communityStandardTitle": [
    "NC_000009.12:g.27543283T>G"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3849942",
        "rs": 3849942
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 27543283,
          "referenceAllele": "T",
          "start": 27543282
        }
      ],
      "hgvs": [
        "NC_000009.12:g.27543283T>G",
        "CM000671.2:g.27543283T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 27543281,
          "referenceAllele": "T",
          "start": 27543280
        }
      ],
      "hgvs": [
        "NC_000009.11:g.27543281T>G",
        "CM000671.1:g.27543281T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 27533281,
          "referenceAllele": "T",
          "start": 27533280
        }
      ],
      "hgvs": [
        "NC_000009.10:g.27533281T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35584,
          "referenceAllele": "A",
          "start": 35583
        }
      ],
      "hgvs": [
        "NG_031977.2:g.35584A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733353"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1671,
          "endIntronDirection": "+",
          "endIntronOffset": 4832,
          "referenceAllele": "A",
          "start": 1671,
          "startIntronDirection": "+",
          "startIntronOffset": 4831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028337",
      "geneNCBI_id": 203228,
      "geneSymbol": "C9orf72",
      "hgvs": [
        "ENST00000673600.1:c.*267+4832A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500650.1:n.*267+4832A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "hgvs": [
        "XR_001746639.2:n.862A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594922"
    }
  ],
  "type": "nucleotide"
}