{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2901451",
  "communityStandardTitle": [
    "NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=298538[alleleid]",
        "alleleId": 298538,
        "preferredName": "NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/348810",
        "RCV": [
          "RCV000293414",
          "RCV000373748",
          "RCV001420995",
          "RCV002379240"
        ],
        "variationId": 348810
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-41748040-T-C",
        "id": "4-41748040-T-C",
        "variant": "4:41748040 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.41748040T>C?assembly=hg19",
        "id": "chr4:g.41748040T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.41746023T>C?assembly=hg38",
        "id": "chr4:g.41746023T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751829128",
        "rs": 751829128
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-41748040-T-C?dataset=gnomad_r2_1",
        "id": "4-41748040-T-C",
        "variant": "4:41748040 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-41746023-T-C?dataset=gnomad_r3",
        "id": "4-41746023-T-C",
        "variant": "4:41746023 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-41746023-T-C?dataset=gnomad_r4",
        "id": "4-41746023-T-C",
        "variant": "4:41746023 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 41746023,
          "referenceAllele": "T",
          "start": 41746022
        }
      ],
      "hgvs": [
        "NC_000004.12:g.41746023T>C",
        "CM000666.2:g.41746023T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 41748040,
          "referenceAllele": "T",
          "start": 41748039
        }
      ],
      "hgvs": [
        "NC_000004.11:g.41748040T>C",
        "CM000666.1:g.41748040T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 41442797,
          "referenceAllele": "T",
          "start": 41442796
        }
      ],
      "hgvs": [
        "NC_000004.10:g.41442797T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7948,
          "referenceAllele": "A",
          "start": 7947
        }
      ],
      "hgvs": [
        "NG_008243.1:g.7948A>G",
        "LRG_513:g.7948A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000974"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 844,
          "referenceAllele": "A",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009143",
      "geneNCBI_id": 8929,
      "geneSymbol": "PHOX2B",
      "hgvs": [
        "ENST00000226382.4:c.729A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226382.2:p.Ala243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740705",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226382.4:c.729A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003924.4:c.729A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226382.2:p.Ala243="
          },
          "RefSeq": {
            "hgvs": "NP_003915.2:p.Ala243="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1089,
          "referenceAllele": "A",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009143",
      "geneNCBI_id": 8929,
      "geneSymbol": "PHOX2B",
      "hgvs": [
        "ENST00000226382.3:c.729A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226382.2:p.Ala243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829456340",
      "coordinates": [
        {
          "allele": "G",
          "end": 1089,
          "referenceAllele": "A",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009143",
      "geneNCBI_id": 8929,
      "geneSymbol": "PHOX2B",
      "hgvs": [
        "NM_003924.3:c.729A>G",
        "LRG_513t1:c.729A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003915.2:p.Ala243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829456340",
      "coordinates": [
        {
          "allele": "G",
          "end": 844,
          "referenceAllele": "A",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009143",
      "geneNCBI_id": 8929,
      "geneSymbol": "PHOX2B",
      "hgvs": [
        "NM_003924.4:c.729A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003915.2:p.Ala243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695985",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226382.4:c.729A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003924.4:c.729A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226382.2:p.Ala243="
          },
          "RefSeq": {
            "hgvs": "NP_003915.2:p.Ala243="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}