{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10653486",
  "communityStandardTitle": [
    "NC_000021.9:g.31659661A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=351578[alleleid]",
        "alleleId": 351578,
        "preferredName": "NM_000454.4(SOD1):c.-109A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/339660",
        "RCV": [
          "RCV001618599",
          "RCV000644458"
        ],
        "variationId": 339660
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.33031974A>G?assembly=hg19",
        "id": "chr21:g.33031974A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.31659661A>G?assembly=hg38",
        "id": "chr21:g.31659661A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7277748",
        "rs": 7277748
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-33031974-A-G?dataset=gnomad_r2_1",
        "id": "21-33031974-A-G",
        "variant": "21:33031974 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-31659661-A-G?dataset=gnomad_r3",
        "id": "21-31659661-A-G",
        "variant": "21:31659661 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-31659661-A-G?dataset=gnomad_r4",
        "id": "21-31659661-A-G",
        "variant": "21:31659661 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 31659661,
          "referenceAllele": "A",
          "start": 31659660
        }
      ],
      "hgvs": [
        "NC_000021.9:g.31659661A>G",
        "CM000683.2:g.31659661A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 33031974,
          "referenceAllele": "A",
          "start": 33031973
        }
      ],
      "hgvs": [
        "NC_000021.8:g.33031974A>G",
        "CM000683.1:g.33031974A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 31953845,
          "referenceAllele": "A",
          "start": 31953844
        }
      ],
      "hgvs": [
        "NC_000021.7:g.31953845A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5040,
          "referenceAllele": "A",
          "start": 5039
        }
      ],
      "hgvs": [
        "NG_008689.1:g.5040A>G",
        "LRG_652:g.5040A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001167"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40,
          "referenceAllele": "A",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000270142.10:c.-109A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270142.6:n.-109A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40,
          "referenceAllele": "A",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NM_000454.4:c.-109A>G",
        "LRG_652t1:c.-109A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000445.1:n.-109A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006516"
    }
  ],
  "type": "nucleotide"
}