{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2175509551",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.5330G= (p.Cys1777=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060501069",
        "rs": 1060501069
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48456729,
          "referenceAllele": "C",
          "start": 48456728
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48456729C=",
        "CM000677.2:g.48456729C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48748926,
          "referenceAllele": "C",
          "start": 48748925
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48748926C=",
        "CM000677.1:g.48748926C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 46536218,
          "referenceAllele": "C",
          "start": 46536217
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46536218C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 194060,
          "referenceAllele": "G",
          "start": 194059
        }
      ],
      "hgvs": [
        "NG_008805.2:g.194060G=",
        "LRG_778:g.194060G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5646,
          "referenceAllele": "G",
          "start": 5645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.5330G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Cys1777="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5646,
          "referenceAllele": "G",
          "start": 5645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.5330G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Cys1777="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4004,
          "referenceAllele": "G",
          "start": 4003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000684448.1:n.4004G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5646,
          "referenceAllele": "G",
          "start": 5645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.5330G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys1777="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.5330G="
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.5330G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys1777="
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys1777="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 329,
          "referenceAllele": "G",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.1:c.329G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.1:p.Cys110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5786,
          "referenceAllele": "G",
          "start": 5785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.5330G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys1777="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2318,
          "referenceAllele": "G",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.*1093G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.*1093G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.5:c.637G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082261523",
      "coordinates": [
        {
          "allele": "G",
          "end": 5725,
          "referenceAllele": "G",
          "start": 5724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.5330G=",
        "LRG_778t1:c.5330G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys1777="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082261523",
      "coordinates": [
        {
          "allele": "G",
          "end": 5646,
          "referenceAllele": "G",
          "start": 5645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.5330G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys1777="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.5330G="
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.5330G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys1777="
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys1777="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}