{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2426745302",
  "communityStandardTitle": [
    "NM_000266.4(NDP):c.218C= (p.Ser73=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894882",
        "rs": 104894882
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 43949983,
          "referenceAllele": "G",
          "start": 43949982
        }
      ],
      "hgvs": [
        "NC_000023.11:g.43949983G=",
        "CM000685.2:g.43949983G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 43809229,
          "referenceAllele": "G",
          "start": 43809228
        }
      ],
      "hgvs": [
        "NC_000023.10:g.43809229G=",
        "CM000685.1:g.43809229G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 43694173,
          "referenceAllele": "G",
          "start": 43694172
        }
      ],
      "hgvs": [
        "NC_000023.9:g.43694173G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28693,
          "referenceAllele": "C",
          "start": 28692
        }
      ],
      "hgvs": [
        "NG_009832.1:g.28693C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001669"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000642620.1:c.218C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495972.1:p.Ser73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766842",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642620.1:c.218C="
          },
          "RefSeq": {
            "hgvs": "NM_000266.4:c.218C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495972.1:p.Ser73="
          },
          "RefSeq": {
            "hgvs": "NP_000257.1:p.Ser73="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000647044.1:c.218C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495811.1:p.Ser73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000378062.5:c.218C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367301.5:p.Ser73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000470584.1:n.262C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194211",
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "NM_000266.3:c.218C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000257.1:p.Ser73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040395",
      "geneNCBI_id": 100873919,
      "geneSymbol": "NDP-AS1",
      "hgvs": [
        "NR_046631.1:n.252G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194211",
      "coordinates": [
        {
          "allele": "C",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "NM_000266.4:c.218C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000257.1:p.Ser73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662376",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642620.1:c.218C="
          },
          "RefSeq": {
            "hgvs": "NM_000266.4:c.218C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495972.1:p.Ser73="
          },
          "RefSeq": {
            "hgvs": "NP_000257.1:p.Ser73="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}