{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2293886799",
  "communityStandardTitle": [
    "NM_000371.4(TTR):c.95T= (p.Leu32=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918094",
        "rs": 121918094
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 31592921,
          "referenceAllele": "T",
          "start": 31592920
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31592921T=",
        "CM000680.2:g.31592921T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 29172884,
          "referenceAllele": "T",
          "start": 29172883
        }
      ],
      "hgvs": [
        "NC_000018.9:g.29172884T=",
        "CM000680.1:g.29172884T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 27426882,
          "referenceAllele": "T",
          "start": 27426881
        }
      ],
      "hgvs": [
        "NC_000018.8:g.27426882T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6155,
          "referenceAllele": "T",
          "start": 6154
        }
      ],
      "hgvs": [
        "NG_009490.1:g.6155T=",
        "LRG_416:g.6155T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001600"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "referenceAllele": "T",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000237014.8:c.95T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000237014.4:p.Leu32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740991",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237014.8:c.95T="
          },
          "RefSeq": {
            "hgvs": "NM_000371.4:c.95T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237014.4:p.Leu32="
          },
          "RefSeq": {
            "hgvs": "NP_000362.1:p.Leu32="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 149,
          "referenceAllele": "T",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000610404.5:c.-2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477599.2:n.-2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 318,
          "referenceAllele": "T",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000649620.1:c.95T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497927.1:p.Leu32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "T",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000237014.7:c.95T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000237014.3:p.Leu32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "referenceAllele": "T",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000432547.7:n.121T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "referenceAllele": "T",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000541025.2:n.121T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "referenceAllele": "T",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000610404.4:c.95T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477599.1:p.Leu32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "referenceAllele": "T",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000613781.1:c.95T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479174.1:p.Leu32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085446656",
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "referenceAllele": "T",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "NM_000371.3:c.95T=",
        "LRG_416t1:c.95T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000362.1:p.Leu32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085446656",
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "referenceAllele": "T",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "NM_000371.4:c.95T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000362.1:p.Leu32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237014.8:c.95T="
          },
          "RefSeq": {
            "hgvs": "NM_000371.4:c.95T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237014.4:p.Leu32="
          },
          "RefSeq": {
            "hgvs": "NP_000362.1:p.Leu32="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}