{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392447030",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.284C>G (p.Ser95Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=655017[alleleid]",
        "alleleId": 655017,
        "preferredName": "NM_000138.5(FBN1):c.284C>G (p.Ser95Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/667454",
        "RCV": [
          "RCV000859996"
        ],
        "variationId": 667454
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48902987G>C?assembly=hg19",
        "id": "chr15:g.48902987G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48610790G>C?assembly=hg38",
        "id": "chr15:g.48610790G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/922684362",
        "rs": 922684362
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48610790,
          "referenceAllele": "G",
          "start": 48610789
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48610790G>C",
        "CM000677.2:g.48610790G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48902987,
          "referenceAllele": "G",
          "start": 48902986
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48902987G>C",
        "CM000677.1:g.48902987G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 46690279,
          "referenceAllele": "G",
          "start": 46690278
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46690279G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 39999,
          "referenceAllele": "C",
          "start": 39998
        }
      ],
      "hgvs": [
        "NG_008805.2:g.39999C>G",
        "LRG_778:g.39999C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.284C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Ser95Trp",
        "hgvsWellDefined": "ENSP00000453958.2:p.Ser95Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.284C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Ser95Trp",
        "hgvsWellDefined": "ENSP00000501333.2:p.Ser95Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.284C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Ser95Trp",
        "hgvsWellDefined": "ENSP00000325527.5:p.Ser95Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.284C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.284C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Ser95Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Ser95Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.284C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Ser95Trp",
        "hgvsWellDefined": "ENSP00000325527.5:p.Ser95Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.284C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:p.Ser95Trp",
        "hgvsWellDefined": "ENSP00000440294.2:p.Ser95Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915959074",
      "coordinates": [
        {
          "allele": "G",
          "end": 679,
          "referenceAllele": "C",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.284C>G",
        "LRG_778t1:c.284C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Ser95Trp",
        "hgvsWellDefined": "NP_000129.3:p.Ser95Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915959074",
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.284C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Ser95Trp",
        "hgvsWellDefined": "NP_000129.3:p.Ser95Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.284C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.284C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Ser95Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Ser95Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}