{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3212402704",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.8561T= (p.Leu2854=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060501033",
        "rs": 1060501033
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48411045,
          "referenceAllele": "A",
          "start": 48411044
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48411045A=",
        "CM000677.2:g.48411045A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48703242,
          "referenceAllele": "A",
          "start": 48703241
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48703242A=",
        "CM000677.1:g.48703242A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 46490534,
          "referenceAllele": "A",
          "start": 46490533
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46490534A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 239744,
          "referenceAllele": "T",
          "start": 239743
        }
      ],
      "hgvs": [
        "NG_008805.2:g.239744T=",
        "LRG_778:g.239744T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8939,
          "referenceAllele": "T",
          "start": 8938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.*1369T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:n.*1369T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1942,
          "referenceAllele": "T",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682158.1:n.1942T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2742,
          "referenceAllele": "T",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682170.1:n.2742T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1858,
          "referenceAllele": "T",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682767.1:n.1858T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8877,
          "referenceAllele": "T",
          "start": 8876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.8561T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Leu2854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.8561T="
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.8561T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Leu2854="
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Leu2854="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9017,
          "referenceAllele": "T",
          "start": 9016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.8561T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Leu2854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3930,
          "referenceAllele": "T",
          "start": 3929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.5:c.3930T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081914458",
      "coordinates": [
        {
          "allele": "T",
          "end": 8956,
          "referenceAllele": "T",
          "start": 8955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.8561T=",
        "LRG_778t1:c.8561T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Leu2854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081914458",
      "coordinates": [
        {
          "allele": "T",
          "end": 8877,
          "referenceAllele": "T",
          "start": 8876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.8561T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Leu2854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.8561T="
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.8561T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Leu2854="
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Leu2854="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}