{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127357",
  "communityStandardTitle": [
    "NC_000009.12:g.133256031G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32778[alleleid]",
        "alleleId": 32778,
        "preferredName": "NM_020469.3(ABO):c.700C>G (p.Pro234Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17739",
        "RCV": [
          "RCV000019313"
        ],
        "variationId": 17739
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136131418G>C?assembly=hg19",
        "id": "chr9:g.136131418G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133256031G>C?assembly=hg38",
        "id": "chr9:g.133256031G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/55722397",
        "rs": 55722397
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136131418-G-C?dataset=gnomad_r2_1",
        "id": "9-136131418-G-C",
        "variant": "9:136131418 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133256031-G-C?dataset=gnomad_r4",
        "id": "9-133256031-G-C",
        "variant": "9:133256031 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 133256031,
          "referenceAllele": "G",
          "start": 133256030
        }
      ],
      "hgvs": [
        "NC_000009.12:g.133256031G>C",
        "CM000671.2:g.133256031G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 136131418,
          "referenceAllele": "G",
          "start": 136131417
        }
      ],
      "hgvs": [
        "NC_000009.11:g.136131418G>C",
        "CM000671.1:g.136131418G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 135121239,
          "referenceAllele": "G",
          "start": 135121238
        }
      ],
      "hgvs": [
        "NC_000009.10:g.135121239G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21637,
          "referenceAllele": "C",
          "start": 21636
        }
      ],
      "hgvs": [
        "NG_006669.1:g.21637C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24185,
          "referenceAllele": "C",
          "start": 24184
        }
      ],
      "hgvs": [
        "NG_006669.2:g.24185C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616063"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000079",
      "geneNCBI_id": 28,
      "geneSymbol": "ABO",
      "hgvs": [
        "ENST00000453660.4:n.729C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756436"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "-",
          "endIntronOffset": 4878,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "-",
          "startIntronOffset": 4879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000079",
      "geneNCBI_id": 28,
      "geneSymbol": "ABO",
      "hgvs": [
        "ENST00000647353.1:n.54-4879C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 58,
          "endIntronDirection": "+",
          "endIntronOffset": 19131,
          "referenceAllele": "C",
          "start": 58,
          "startIntronDirection": "+",
          "startIntronOffset": 19130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000079",
      "geneNCBI_id": 28,
      "geneSymbol": "ABO",
      "hgvs": [
        "ENST00000679909.1:c.28+19131C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506089.1:n.28+19131C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000079",
      "geneNCBI_id": 28,
      "geneSymbol": "ABO",
      "hgvs": [
        "ENST00000453660.3:n.711C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS302213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000079",
      "geneNCBI_id": 28,
      "geneSymbol": "ABO",
      "hgvs": [
        "ENST00000538324.2:c.697C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483018.1:p.Pro233Ala",
        "hgvsWellDefined": "ENSP00000483018.1:p.Pro233Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000079",
      "geneNCBI_id": 28,
      "geneSymbol": "ABO",
      "hgvs": [
        "ENST00000611156.4:c.697C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483265.1:p.Pro233Ala",
        "hgvsWellDefined": "ENSP00000483265.1:p.Pro233Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127358",
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000079",
      "geneNCBI_id": 28,
      "geneSymbol": "ABO",
      "hgvs": [
        "NM_020469.2:c.700C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065202.2:p.Pro234Ala",
        "hgvsWellDefined": "NP_065202.2:p.Pro234Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127358",
      "coordinates": [
        {
          "allele": "G",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000079",
      "geneNCBI_id": 28,
      "geneSymbol": "ABO",
      "hgvs": [
        "NM_020469.3:c.700C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065202.2:p.Pro234Ala",
        "hgvsWellDefined": "NP_065202.2:p.Pro234Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525975"
    }
  ],
  "type": "nucleotide"
}