{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2435564174",
  "communityStandardTitle": [
    "NM_004429.5(EFNB1):c.474G= (p.Met158=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28935170",
        "rs": 28935170
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 68839731,
          "referenceAllele": "G",
          "start": 68839730
        }
      ],
      "hgvs": [
        "NC_000023.11:g.68839731G=",
        "CM000685.2:g.68839731G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 68059574,
          "referenceAllele": "G",
          "start": 68059573
        }
      ],
      "hgvs": [
        "NC_000023.10:g.68059574G=",
        "CM000685.1:g.68059574G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 67976299,
          "referenceAllele": "G",
          "start": 67976298
        }
      ],
      "hgvs": [
        "NC_000023.9:g.67976299G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15735,
          "referenceAllele": "G",
          "start": 15734
        }
      ],
      "hgvs": [
        "NG_008887.1:g.15735G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001282"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003226",
      "geneNCBI_id": 1947,
      "geneSymbol": "EFNB1",
      "hgvs": [
        "ENST00000204961.5:c.474G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000204961.4:p.Met158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000204961.5:c.474G="
          },
          "RefSeq": {
            "hgvs": "NM_004429.5:c.474G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000204961.4:p.Met158="
          },
          "RefSeq": {
            "hgvs": "NP_004420.1:p.Met158="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003226",
      "geneNCBI_id": 1947,
      "geneSymbol": "EFNB1",
      "hgvs": [
        "ENST00000204961.4:c.474G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000204961.4:p.Met158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063190821",
      "coordinates": [
        {
          "allele": "G",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003226",
      "geneNCBI_id": 1947,
      "geneSymbol": "EFNB1",
      "hgvs": [
        "NM_004429.4:c.474G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004420.1:p.Met158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063190821",
      "coordinates": [
        {
          "allele": "G",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003226",
      "geneNCBI_id": 1947,
      "geneSymbol": "EFNB1",
      "hgvs": [
        "NM_004429.5:c.474G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004420.1:p.Met158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727504",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000204961.5:c.474G="
          },
          "RefSeq": {
            "hgvs": "NM_004429.5:c.474G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000204961.4:p.Met158="
          },
          "RefSeq": {
            "hgvs": "NP_004420.1:p.Met158="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}