{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2575827423",
  "communityStandardTitle": [
    "NM_000326.5(RLBP1):c.12+6T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2418741[alleleid]",
        "alleleId": 2418741,
        "preferredName": "NM_000326.5(RLBP1):c.12+6T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2445789",
        "RCV": [
          "RCV003155708"
        ],
        "variationId": 2445789
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2505865755",
        "rs": 2505865755
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89218958,
          "referenceAllele": "A",
          "start": 89218957
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89218958A>G",
        "CM000677.2:g.89218958A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89762189,
          "referenceAllele": "A",
          "start": 89762188
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89762189A>G",
        "CM000677.1:g.89762189A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 87563193,
          "referenceAllele": "A",
          "start": 87563192
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87563193A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7734,
          "referenceAllele": "T",
          "start": 7733
        }
      ],
      "hgvs": [
        "NG_008116.1:g.7734T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000861"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 280,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 280,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "ENST00000268125.10:c.12+6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268125.5:n.12+6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743030",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268125.10:c.12+6T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000326.5:c.12+6T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268125.5:n.12+6T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000317.1:n.12+6T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 452,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 452,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "ENST00000268125.9:c.12+6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268125.5:n.12+6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252052"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 256,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 256,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "ENST00000567787.1:c.12+6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457251.1:n.12+6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 392,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 392,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "NM_000326.4:c.12+6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000317.1:n.12+6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 551,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 551,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "XM_011521870.1:c.12+6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520172.1:n.12+6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1821,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1821,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "XM_011521870.2:c.12+6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520172.1:n.12+6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 280,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 280,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "NM_000326.5:c.12+6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000317.1:n.12+6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268125.10:c.12+6T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000326.5:c.12+6T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268125.5:n.12+6T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000317.1:n.12+6T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}