{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1142022306",
  "communityStandardTitle": [
    "NM_016233.2(PADI3):c.1813C= (p.Pro605=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144944758",
        "rs": 144944758
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17282897,
          "referenceAllele": "C",
          "start": 17282896
        }
      ],
      "hgvs": [
        "NC_000001.11:g.17282897C=",
        "CM000663.2:g.17282897C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17609392,
          "referenceAllele": "C",
          "start": 17609391
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17609392C=",
        "CM000663.1:g.17609392C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17481979,
          "referenceAllele": "C",
          "start": 17481978
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17481979C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38819,
          "referenceAllele": "C",
          "start": 38818
        }
      ],
      "hgvs": [
        "NG_052788.1:g.38819C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617162"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1853,
          "referenceAllele": "C",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "ENST00000375460.3:c.1813C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364609.3:p.Pro605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375460.3:c.1813C="
          },
          "RefSeq": {
            "hgvs": "NM_016233.2:c.1813C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364609.3:p.Pro605="
          },
          "RefSeq": {
            "hgvs": "NP_057317.2:p.Pro605="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063955848",
      "coordinates": [
        {
          "allele": "C",
          "end": 1853,
          "referenceAllele": "C",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "NM_016233.2:c.1813C="
      ],
      "proteinEffect": {
        "hgvs": "NP_057317.2:p.Pro605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375460.3:c.1813C="
          },
          "RefSeq": {
            "hgvs": "NM_016233.2:c.1813C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364609.3:p.Pro605="
          },
          "RefSeq": {
            "hgvs": "NP_057317.2:p.Pro605="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1755,
          "referenceAllele": "C",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "XM_006710684.2:c.1699C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006710747.1:p.Pro567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3298,
          "referenceAllele": "C",
          "start": 3297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "XM_011541571.1:c.1699C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539873.1:p.Pro567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3464,
          "referenceAllele": "C",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "XM_011541571.2:c.1699C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539873.1:p.Pro567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "XM_017001463.1:c.1276C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856952.1:p.Pro426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557635"
    }
  ],
  "type": "nucleotide"
}