{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3085567992",
  "communityStandardTitle": [
    "NM_000030.3(AGXT):c.276T= (p.Asn92=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/180177187",
        "rs": 180177187
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2106427613",
        "rs": 2106427613
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 240869280,
          "referenceAllele": "T",
          "start": 240869279
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240869280T=",
        "CM000664.2:g.240869280T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 241808697,
          "referenceAllele": "T",
          "start": 241808696
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241808697T=",
        "CM000664.1:g.241808697T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 241457370,
          "referenceAllele": "T",
          "start": 241457369
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241457370T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5536,
          "referenceAllele": "T",
          "start": 5535
        }
      ],
      "hgvs": [
        "NG_008005.1:g.5536T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000769"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 318,
          "referenceAllele": "T",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.4:c.276T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:p.Asn92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.276T="
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.276T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:p.Asn92="
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:p.Asn92="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "T",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.3:c.276T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:p.Asn92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "referenceAllele": "T",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000472436.1:n.296T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825007604",
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "referenceAllele": "T",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.2:c.276T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:p.Asn92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 953,
          "referenceAllele": "A",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 952
        }
      ],
      "hgvs": [
        "XR_924060.1:n.405+953A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121120"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825007604",
      "coordinates": [
        {
          "allele": "T",
          "end": 318,
          "referenceAllele": "T",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.3:c.276T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:p.Asn92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.276T="
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.276T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:p.Asn92="
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:p.Asn92="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}