{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1988807997",
  "communityStandardTitle": [
    "NM_012193.4(FZD4):c.1333A= (p.Thr445=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358297",
        "rs": 80358297
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 86951423,
          "referenceAllele": "T",
          "start": 86951422
        }
      ],
      "hgvs": [
        "NC_000011.10:g.86951423T=",
        "CM000673.2:g.86951423T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 86662465,
          "referenceAllele": "T",
          "start": 86662464
        }
      ],
      "hgvs": [
        "NC_000011.9:g.86662465T=",
        "CM000673.1:g.86662465T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 86340113,
          "referenceAllele": "T",
          "start": 86340112
        }
      ],
      "hgvs": [
        "NC_000011.8:g.86340113T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8969,
          "referenceAllele": "A",
          "start": 8968
        }
      ],
      "hgvs": [
        "NG_011752.1:g.8969A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001950"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1643,
          "referenceAllele": "A",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "ENST00000531380.2:c.1333A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434034.1:p.Thr445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000531380.2:c.1333A="
          },
          "RefSeq": {
            "hgvs": "NM_012193.4:c.1333A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434034.1:p.Thr445="
          },
          "RefSeq": {
            "hgvs": "NP_036325.2:p.Thr445="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1639,
          "referenceAllele": "A",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "ENST00000531380.1:c.1333A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434034.1:p.Thr445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "referenceAllele": "T",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "ENST00000531521.1:n.594T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "referenceAllele": "T",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "ENST00000532234.5:c.*416T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436676.1:n.*416T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "T",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "ENST00000533902.2:c.*138T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437268.1:n.*138T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709527",
      "coordinates": [
        {
          "allele": "A",
          "end": 1646,
          "referenceAllele": "A",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "NM_012193.3:c.1333A="
      ],
      "proteinEffect": {
        "hgvs": "NP_036325.2:p.Thr445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1088,
          "referenceAllele": "T",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120591.1:n.1088T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "referenceAllele": "T",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120592.1:n.837T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "T",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120591.2:n.786T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "T",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120592.2:n.535T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709527",
      "coordinates": [
        {
          "allele": "A",
          "end": 1643,
          "referenceAllele": "A",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "NM_012193.4:c.1333A="
      ],
      "proteinEffect": {
        "hgvs": "NP_036325.2:p.Thr445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000531380.2:c.1333A="
          },
          "RefSeq": {
            "hgvs": "NM_012193.4:c.1333A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434034.1:p.Thr445="
          },
          "RefSeq": {
            "hgvs": "NP_036325.2:p.Thr445="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "T",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120591.3:n.786T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730739"
    }
  ],
  "type": "nucleotide"
}