{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA125432",
  "communityStandardTitle": [
    "NM_000518.5(HBB):c.290T>C (p.Leu97Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30589[alleleid]",
        "alleleId": 30589,
        "preferredName": "NM_000518.5(HBB):c.290T>C (p.Leu97Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15550",
        "RCV": [
          "RCV000016816"
        ],
        "variationId": 15550
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5247832A>G?assembly=hg19",
        "id": "chr11:g.5247832A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5226602A>G?assembly=hg38",
        "id": "chr11:g.5226602A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/36081208",
        "rs": 36081208
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5226602,
          "referenceAllele": "A",
          "start": 5226601
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5226602A>G",
        "CM000673.2:g.5226602A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5247832,
          "referenceAllele": "A",
          "start": 5247831
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5247832A>G",
        "CM000673.1:g.5247832A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5204408,
          "referenceAllele": "A",
          "start": 5204407
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5204408A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 71014,
          "referenceAllele": "T",
          "start": 71013
        }
      ],
      "hgvs": [
        "NG_000007.3:g.71014T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5470,
          "referenceAllele": "T",
          "start": 5469
        }
      ],
      "hgvs": [
        "NG_059281.1:g.5470T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617598"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 466,
          "referenceAllele": "T",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000647020.1:c.290T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494175.1:p.Leu97Pro",
        "hgvsWellDefined": "ENSP00000494175.1:p.Leu97Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "referenceAllele": "T",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000335295.4:c.290T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333994.3:p.Leu97Pro",
        "hgvsWellDefined": "ENSP00000333994.3:p.Leu97Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.290T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.290T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Leu97Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Leu97Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 222,
          "referenceAllele": "T",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000475226.1:n.222T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 341,
          "referenceAllele": "T",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000485743.1:n.341T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "referenceAllele": "T",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000633227.1:c.*106T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488004.1:n.*106T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA125433",
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "referenceAllele": "T",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.4:c.290T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Leu97Pro",
        "hgvsWellDefined": "NP_000509.1:p.Leu97Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA125433",
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "referenceAllele": "T",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.5:c.290T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Leu97Pro",
        "hgvsWellDefined": "NP_000509.1:p.Leu97Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.290T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.290T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Leu97Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Leu97Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}