{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2367741236",
  "communityStandardTitle": [
    "NM_020820.4(PREX1):c.415-3822A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6066835",
        "rs": 6066835
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 48738472,
          "referenceAllele": "T",
          "start": 48738471
        }
      ],
      "hgvs": [
        "NC_000020.11:g.48738472T=",
        "CM000682.2:g.48738472T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 47355009,
          "referenceAllele": "T",
          "start": 47355008
        }
      ],
      "hgvs": [
        "NC_000020.10:g.47355009T=",
        "CM000682.1:g.47355009T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 46788416,
          "referenceAllele": "T",
          "start": 46788415
        }
      ],
      "hgvs": [
        "NC_000020.9:g.46788416T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "endIntronDirection": "-",
          "endIntronOffset": 3821,
          "referenceAllele": "A",
          "start": 553,
          "startIntronDirection": "-",
          "startIntronOffset": 3822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032594",
      "geneNCBI_id": 57580,
      "geneSymbol": "PREX1",
      "hgvs": [
        "ENST00000371941.4:c.415-3822A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361009.3:n.415-3822A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750894",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371941.4:c.415-3822A="
          },
          "RefSeq": {
            "hgvs": "NM_020820.4:c.415-3822A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361009.3:n.415-3822A="
          },
          "RefSeq": {
            "hgvs": "NP_065871.3:n.415-3822A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "endIntronDirection": "-",
          "endIntronOffset": 3821,
          "referenceAllele": "A",
          "start": 437,
          "startIntronDirection": "-",
          "startIntronOffset": 3822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032594",
      "geneNCBI_id": 57580,
      "geneSymbol": "PREX1",
      "hgvs": [
        "ENST00000371941.3:c.415-3822A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361009.3:n.415-3822A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "endIntronDirection": "-",
          "endIntronOffset": 3821,
          "referenceAllele": "A",
          "start": 437,
          "startIntronDirection": "-",
          "startIntronOffset": 3822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032594",
      "geneNCBI_id": 57580,
      "geneSymbol": "PREX1",
      "hgvs": [
        "NM_020820.3:c.415-3822A="
      ],
      "proteinEffect": {
        "hgvs": "NP_065871.2:n.415-3822A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036615"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "endIntronDirection": "-",
          "endIntronOffset": 3821,
          "referenceAllele": "A",
          "start": 553,
          "startIntronDirection": "-",
          "startIntronOffset": 3822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032594",
      "geneNCBI_id": 57580,
      "geneSymbol": "PREX1",
      "hgvs": [
        "NM_020820.4:c.415-3822A="
      ],
      "proteinEffect": {
        "hgvs": "NP_065871.3:n.415-3822A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670112",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371941.4:c.415-3822A="
          },
          "RefSeq": {
            "hgvs": "NM_020820.4:c.415-3822A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361009.3:n.415-3822A="
          },
          "RefSeq": {
            "hgvs": "NP_065871.3:n.415-3822A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}