{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2293887830",
  "communityStandardTitle": [
    "NM_000371.4(TTR):c.270A= (p.Lys90=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607160",
        "rs": 267607160
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 31595189,
          "referenceAllele": "A",
          "start": 31595188
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31595189A=",
        "CM000680.2:g.31595189A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 29175152,
          "referenceAllele": "A",
          "start": 29175151
        }
      ],
      "hgvs": [
        "NC_000018.9:g.29175152A=",
        "CM000680.1:g.29175152A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 27429150,
          "referenceAllele": "A",
          "start": 27429149
        }
      ],
      "hgvs": [
        "NC_000018.8:g.27429150A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8423,
          "referenceAllele": "A",
          "start": 8422
        }
      ],
      "hgvs": [
        "NG_009490.1:g.8423A=",
        "LRG_416:g.8423A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001600"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "referenceAllele": "A",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000237014.8:c.270A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000237014.4:p.Lys90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740991",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237014.8:c.270A="
          },
          "RefSeq": {
            "hgvs": "NM_000371.4:c.270A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237014.4:p.Lys90="
          },
          "RefSeq": {
            "hgvs": "NP_000362.1:p.Lys90="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000610404.5:c.174A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477599.2:p.Lys58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "A",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000649620.1:c.270A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497927.1:p.Lys90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "A",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000237014.7:c.270A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000237014.3:p.Lys90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "referenceAllele": "A",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000541025.2:n.296A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 406,
          "referenceAllele": "A",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000610404.4:c.270A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477599.1:p.Lys90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 406,
          "referenceAllele": "A",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000613781.1:c.270A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479174.1:p.Lys90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085464432",
      "coordinates": [
        {
          "allele": "A",
          "end": 406,
          "referenceAllele": "A",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "NM_000371.3:c.270A=",
        "LRG_416t1:c.270A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000362.1:p.Lys90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085464432",
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "referenceAllele": "A",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "NM_000371.4:c.270A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000362.1:p.Lys90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237014.8:c.270A="
          },
          "RefSeq": {
            "hgvs": "NM_000371.4:c.270A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237014.4:p.Lys90="
          },
          "RefSeq": {
            "hgvs": "NP_000362.1:p.Lys90="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}