{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1445033267",
  "communityStandardTitle": [
    "NM_003102.4(SOD3):c.691C= (p.Arg231=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1799895",
        "rs": 1799895
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 24800212,
          "referenceAllele": "C",
          "start": 24800211
        }
      ],
      "hgvs": [
        "NC_000004.12:g.24800212C=",
        "CM000666.2:g.24800212C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 24801834,
          "referenceAllele": "C",
          "start": 24801833
        }
      ],
      "hgvs": [
        "NC_000004.11:g.24801834C=",
        "CM000666.1:g.24801834C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 24410932,
          "referenceAllele": "C",
          "start": 24410931
        }
      ],
      "hgvs": [
        "NC_000004.10:g.24410932C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9750,
          "referenceAllele": "C",
          "start": 9749
        }
      ],
      "hgvs": [
        "NG_012213.1:g.9750C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002294"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011181",
      "geneNCBI_id": 6649,
      "geneSymbol": "SOD3",
      "hgvs": [
        "ENST00000382120.4:c.691C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371554.3:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752626",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382120.4:c.691C="
          },
          "RefSeq": {
            "hgvs": "NM_003102.4:c.691C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371554.3:p.Arg231="
          },
          "RefSeq": {
            "hgvs": "NP_003093.2:p.Arg231="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011181",
      "geneNCBI_id": 6649,
      "geneSymbol": "SOD3",
      "hgvs": [
        "ENST00000382120.3:c.691C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371554.3:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069873083",
      "coordinates": [
        {
          "allele": "C",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011181",
      "geneNCBI_id": 6649,
      "geneSymbol": "SOD3",
      "hgvs": [
        "NM_003102.2:c.691C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003093.2:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028375"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 881,
          "referenceAllele": "C",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011181",
      "geneNCBI_id": 6649,
      "geneSymbol": "SOD3",
      "hgvs": [
        "XR_427488.1:n.881C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117750"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069873083",
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011181",
      "geneNCBI_id": 6649,
      "geneSymbol": "SOD3",
      "hgvs": [
        "NM_003102.3:c.691C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003093.2:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069873083",
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011181",
      "geneNCBI_id": 6649,
      "geneSymbol": "SOD3",
      "hgvs": [
        "NM_003102.4:c.691C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003093.2:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382120.4:c.691C="
          },
          "RefSeq": {
            "hgvs": "NM_003102.4:c.691C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371554.3:p.Arg231="
          },
          "RefSeq": {
            "hgvs": "NP_003093.2:p.Arg231="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}