{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2200883328",
  "communityStandardTitle": [
    "NM_000558.5(HBA1):c.424C= (p.Arg142=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/33991910",
        "rs": 33991910
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 177406,
          "referenceAllele": "C",
          "start": 177405
        }
      ],
      "hgvs": [
        "NC_000016.10:g.177406C=",
        "CM000678.2:g.177406C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 227405,
          "referenceAllele": "C",
          "start": 227404
        }
      ],
      "hgvs": [
        "NC_000016.9:g.227405C=",
        "CM000678.1:g.227405C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 167405,
          "referenceAllele": "C",
          "start": 167404
        }
      ],
      "hgvs": [
        "NC_000016.8:g.167405C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38269,
          "referenceAllele": "C",
          "start": 38268
        }
      ],
      "hgvs": [
        "NG_000006.1:g.38269C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5756,
          "referenceAllele": "C",
          "start": 5755
        }
      ],
      "hgvs": [
        "NG_059186.1:g.5756C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617596"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000320868.9:c.424C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322421.5:p.Arg142="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320868.9:c.424C="
          },
          "RefSeq": {
            "hgvs": "NM_000558.5:c.424C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322421.5:p.Arg142="
          },
          "RefSeq": {
            "hgvs": "NP_000549.1:p.Arg142="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000397797.1:c.328C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380899.1:p.Arg110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000472694.1:n.560C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082807436",
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NM_000558.4:c.424C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000549.1:p.Arg142="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082807436",
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NM_000558.5:c.424C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000549.1:p.Arg142="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320868.9:c.424C="
          },
          "RefSeq": {
            "hgvs": "NM_000558.5:c.424C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322421.5:p.Arg142="
          },
          "RefSeq": {
            "hgvs": "NP_000549.1:p.Arg142="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}