{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2159074850",
  "communityStandardTitle": [
    "NM_001134888.3(RTL1):c.1672C= (p.Pro558=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41286560",
        "rs": 41286560
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 100883117,
          "referenceAllele": "G",
          "start": 100883116
        }
      ],
      "hgvs": [
        "NC_000014.9:g.100883117G=",
        "CM000676.2:g.100883117G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 101349454,
          "referenceAllele": "G",
          "start": 101349453
        }
      ],
      "hgvs": [
        "NC_000014.8:g.101349454G=",
        "CM000676.1:g.101349454G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 100419207,
          "referenceAllele": "G",
          "start": 100419206
        }
      ],
      "hgvs": [
        "NC_000014.7:g.100419207G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6731,
          "referenceAllele": "C",
          "start": 6730
        }
      ],
      "hgvs": [
        "NG_045001.1:g.6731C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 51849,
          "referenceAllele": "G",
          "start": 51848
        }
      ],
      "hgvs": [
        "NG_045000.5:g.51849G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616374"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 51849,
          "referenceAllele": "G",
          "start": 51848
        }
      ],
      "hgvs": [
        "NG_045000.6:g.51849G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25606,
          "referenceAllele": "C",
          "start": 25605
        }
      ],
      "hgvs": [
        "NG_045001.2:g.25606C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733365"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2034,
          "referenceAllele": "C",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014665",
      "geneNCBI_id": 388015,
      "geneSymbol": "RTL1",
      "hgvs": [
        "ENST00000649591.1:c.1672C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497482.1:p.Pro558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649591.1:c.1672C="
          },
          "RefSeq": {
            "hgvs": "NM_001134888.3:c.1672C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497482.1:p.Pro558="
          },
          "RefSeq": {
            "hgvs": "NP_001128360.1:p.Pro558="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1731,
          "referenceAllele": "C",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014665",
      "geneNCBI_id": 388015,
      "geneSymbol": "RTL1",
      "hgvs": [
        "ENST00000534062.1:c.1672C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435342.1:p.Pro558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081103787",
      "coordinates": [
        {
          "allele": "C",
          "end": 1731,
          "referenceAllele": "C",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014665",
      "geneNCBI_id": 388015,
      "geneSymbol": "RTL1",
      "hgvs": [
        "NM_001134888.2:c.1672C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001128360.1:p.Pro558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081103787",
      "coordinates": [
        {
          "allele": "C",
          "end": 2034,
          "referenceAllele": "C",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014665",
      "geneNCBI_id": 388015,
      "geneSymbol": "RTL1",
      "hgvs": [
        "NM_001134888.3:c.1672C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001128360.1:p.Pro558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649591.1:c.1672C="
          },
          "RefSeq": {
            "hgvs": "NM_001134888.3:c.1672C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497482.1:p.Pro558="
          },
          "RefSeq": {
            "hgvs": "NP_001128360.1:p.Pro558="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}