{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2263242516",
  "communityStandardTitle": [
    "NM_006361.6(HOXB13):c.366C= (p.Ser122=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8556",
        "rs": 8556
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 48728228,
          "referenceAllele": "G",
          "start": 48728227
        }
      ],
      "hgvs": [
        "NC_000017.11:g.48728228G=",
        "CM000679.2:g.48728228G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 46805590,
          "referenceAllele": "G",
          "start": 46805589
        }
      ],
      "hgvs": [
        "NC_000017.10:g.46805590G=",
        "CM000679.1:g.46805590G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 44160589,
          "referenceAllele": "G",
          "start": 44160588
        }
      ],
      "hgvs": [
        "NC_000017.9:g.44160589G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5522,
          "referenceAllele": "C",
          "start": 5521
        }
      ],
      "hgvs": [
        "NG_033789.1:g.5522C=",
        "LRG_771:g.5522C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005513"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005112",
      "geneNCBI_id": 10481,
      "geneSymbol": "HOXB13",
      "hgvs": [
        "ENST00000290295.8:c.366C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290295.8:p.Ser122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290295.8:c.366C="
          },
          "RefSeq": {
            "hgvs": "NM_006361.6:c.366C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290295.8:p.Ser122="
          },
          "RefSeq": {
            "hgvs": "NP_006352.2:p.Ser122="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "referenceAllele": "C",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005112",
      "geneNCBI_id": 10481,
      "geneSymbol": "HOXB13",
      "hgvs": [
        "ENST00000290295.7:c.366C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290295.7:p.Ser122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253637"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829656165",
      "coordinates": [
        {
          "allele": "C",
          "end": 522,
          "referenceAllele": "C",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005112",
      "geneNCBI_id": 10481,
      "geneSymbol": "HOXB13",
      "hgvs": [
        "NM_006361.5:c.366C=",
        "LRG_771t1:c.366C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006352.2:p.Ser122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031379"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829656165",
      "coordinates": [
        {
          "allele": "C",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005112",
      "geneNCBI_id": 10481,
      "geneSymbol": "HOXB13",
      "hgvs": [
        "NM_006361.6:c.366C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006352.2:p.Ser122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696687",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290295.8:c.366C="
          },
          "RefSeq": {
            "hgvs": "NM_006361.6:c.366C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290295.8:p.Ser122="
          },
          "RefSeq": {
            "hgvs": "NP_006352.2:p.Ser122="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}