{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA410396871", "communityStandardTitle": [ "NM_000071.3(CBS):c.1357G>A (p.Gly453Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3224988[alleleid]", "alleleId": 3224988, "preferredName": "NM_000071.3(CBS):c.1357G>A (p.Gly453Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3064787", "RCV": [ "RCV003989272" ], "variationId": 3064787 } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.43058835C>T?assembly=hg38", "id": "chr21:g.43058835C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886057099", "rs": 886057099 } ] }, "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 43058835, "referenceAllele": "C", "start": 43058834 } ], "hgvs": [ "NC_000021.9:g.43058835C>T", "CM000683.2:g.43058835C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000069" }, { "coordinates": [ { "allele": "A", "end": 22096, "referenceAllele": "G", "start": 22095 } ], "hgvs": [ "NG_008938.1:g.22096G>A", "LRG_777:g.22096G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001316" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "G", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.8:c.1357G>A" ], "proteinEffect": { "hgvs": "ENSP00000381231.4:p.Gly453Arg", "hgvsWellDefined": "ENSP00000381231.4:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS753730", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.1357G>A" }, "RefSeq": { "hgvs": "NM_000071.3:c.1357G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Gly453Arg" }, "RefSeq": { "hgvs": "NP_000062.1:p.Gly453Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 1595, "referenceAllele": "G", "start": 1594 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000352178.9:c.1357G>A" ], "proteinEffect": { "hgvs": "ENSP00000344460.5:p.Gly453Arg", "hgvsWellDefined": "ENSP00000344460.5:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS262839" }, { "coordinates": [ { "allele": "A", "end": 1579, "referenceAllele": "G", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000359624.7:c.1357G>A" ], "proteinEffect": { "hgvs": "ENSP00000352643.3:p.Gly453Arg", "hgvsWellDefined": "ENSP00000352643.3:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS264850" }, { "coordinates": [ { "allele": "A", "end": 1465, "referenceAllele": "G", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398158.5:c.1357G>A" ], "proteinEffect": { "hgvs": "ENSP00000381225.1:p.Gly453Arg", "hgvsWellDefined": "ENSP00000381225.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS278160" }, { "coordinates": [ { "allele": "A", "end": 1617, "referenceAllele": "G", "start": 1616 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.7:c.1357G>A" ], "proteinEffect": { "hgvs": "ENSP00000381231.3:p.Gly453Arg", "hgvsWellDefined": "ENSP00000381231.3:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS278163" }, { "coordinates": [ { "allele": "A", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000430013.1:c.318G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS290940" }, { "coordinates": [ { "allele": "A", "end": 107, "referenceAllele": "G", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000451248.5:c.107G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS301090" }, { "coordinates": [ { "allele": "A", "end": 120, "referenceAllele": "G", "start": 119 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000458223.5:c.120G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS304304" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "G", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000461686.5:n.1668G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306139" }, { "coordinates": [ { "allele": "A", "end": 648, "referenceAllele": "G", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000462349.5:n.648G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306630" }, { "coordinates": [ { "allele": "A", "end": 292, "referenceAllele": "G", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000491776.1:n.292G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329303" }, { "@id": "http://reg.genome.network/allele/PA2579801687", "coordinates": [ { "allele": "A", "end": 1602, "referenceAllele": "G", "start": 1601 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.2:c.1357G>A", "LRG_777t1:c.1357G>A" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Gly453Arg", "hgvsWellDefined": "NP_000062.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006135" }, { "@id": "http://reg.genome.network/allele/PA2826133107", "coordinates": [ { "allele": "A", "end": 1579, "referenceAllele": "G", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.1:c.1357G>A" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Gly453Arg", "hgvsWellDefined": "NP_001171479.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS015804" }, { "@id": "http://reg.genome.network/allele/PA2826133785", "coordinates": [ { "allele": "A", "end": 1579, "referenceAllele": "G", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.1:c.1357G>A" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Gly453Arg", "hgvsWellDefined": "NP_001171480.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS015805" }, { "coordinates": [ { "allele": "A", "end": 1724, "referenceAllele": "G", "start": 1723 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529773.1:c.1408G>A" ], "proteinEffect": { "hgvs": "XP_011528075.1:p.Gly470Arg", "hgvsWellDefined": "XP_011528075.1:p.Gly470Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096838" }, { "coordinates": [ { "allele": "A", "end": 1724, "referenceAllele": "G", "start": 1723 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529774.1:c.1408G>A" ], "proteinEffect": { "hgvs": "XP_011528076.1:p.Gly470Arg", "hgvsWellDefined": "XP_011528076.1:p.Gly470Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096839" }, { "coordinates": [ { "allele": "A", "end": 1722, "referenceAllele": "G", "start": 1721 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529775.1:c.1408G>A" ], "proteinEffect": { "hgvs": "XP_011528077.1:p.Gly470Arg", "hgvsWellDefined": "XP_011528077.1:p.Gly470Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096840" }, { "coordinates": [ { "allele": "A", "end": 1722, "referenceAllele": "G", "start": 1721 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529776.1:c.1408G>A" ], "proteinEffect": { "hgvs": "XP_011528078.1:p.Gly470Arg", "hgvsWellDefined": "XP_011528078.1:p.Gly470Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096841" }, { "coordinates": [ { "allele": "A", "end": 1545, "referenceAllele": "G", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.1:c.1357G>A" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Gly453Arg", "hgvsWellDefined": "XP_011528079.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096842" }, { "coordinates": [ { "allele": "A", "end": 1604, "referenceAllele": "G", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529778.1:c.1357G>A" ], "proteinEffect": { "hgvs": "XP_011528080.1:p.Gly453Arg", "hgvsWellDefined": "XP_011528080.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096843" }, { "coordinates": [ { "allele": "A", "end": 1598, "referenceAllele": "G", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529779.1:c.1357G>A" ], "proteinEffect": { "hgvs": "XP_011528081.1:p.Gly453Arg", "hgvsWellDefined": "XP_011528081.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096844" }, { "coordinates": [ { "allele": "A", "end": 1610, "referenceAllele": "G", "start": 1609 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529781.1:c.1357G>A" ], "proteinEffect": { "hgvs": "XP_011528083.1:p.Gly453Arg", "hgvsWellDefined": "XP_011528083.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096845" }, { "coordinates": [ { "allele": "A", "end": 2008, "referenceAllele": "G", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529782.1:c.1357G>A" ], "proteinEffect": { "hgvs": "XP_011528084.1:p.Gly453Arg", "hgvsWellDefined": "XP_011528084.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096846" }, { "coordinates": [ { "allele": "A", "end": 1635, "referenceAllele": "G", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529783.1:c.1042G>A" ], "proteinEffect": { "hgvs": "XP_011528085.1:p.Gly348Arg", "hgvsWellDefined": "XP_011528085.1:p.Gly348Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096847" }, { "coordinates": [ { "allele": "A", "end": 1635, "referenceAllele": "G", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529784.1:c.1042G>A" ], "proteinEffect": { "hgvs": "XP_011528086.1:p.Gly348Arg", "hgvsWellDefined": "XP_011528086.1:p.Gly348Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096848" }, { "@id": "http://reg.genome.network/allele/PA2826133107", "coordinates": [ { "allele": "A", "end": 1609, "referenceAllele": "G", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.2:c.1357G>A" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Gly453Arg", "hgvsWellDefined": "NP_001171479.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511745" }, { "@id": "http://reg.genome.network/allele/PA2826133785", "coordinates": [ { "allele": "A", "end": 1609, "referenceAllele": "G", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.2:c.1357G>A" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Gly453Arg", "hgvsWellDefined": "NP_001171480.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511746" }, { "@id": "http://reg.genome.network/allele/PA2827043253", "coordinates": [ { "allele": "A", "end": 1603, "referenceAllele": "G", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.1:c.1357G>A" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Gly453Arg", "hgvsWellDefined": "NP_001307227.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS513529" }, { "@id": "http://reg.genome.network/allele/PA2827070818", "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "G", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001321072.1:c.1042G>A" ], "proteinEffect": { "hgvs": "NP_001308001.1:p.Gly348Arg", "hgvsWellDefined": "NP_001308001.1:p.Gly348Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS514014" }, { "coordinates": [ { "allele": "A", "end": 1728, "referenceAllele": "G", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529774.2:c.1408G>A" ], "proteinEffect": { "hgvs": "XP_011528076.1:p.Gly470Arg", "hgvsWellDefined": "XP_011528076.1:p.Gly470Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS549665" }, { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "G", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.2:c.1357G>A" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Gly453Arg", "hgvsWellDefined": "XP_011528079.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS549666" }, { "coordinates": [ { "allele": "A", "end": 1640, "referenceAllele": "G", "start": 1639 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529783.2:c.1042G>A" ], "proteinEffect": { "hgvs": "XP_011528085.1:p.Gly348Arg", "hgvsWellDefined": "XP_011528085.1:p.Gly348Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS549667" }, { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "G", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_017028491.2:c.1357G>A" ], "proteinEffect": { "hgvs": "XP_016883980.1:p.Gly453Arg", "hgvsWellDefined": "XP_016883980.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS578228" }, { "coordinates": [ { "allele": "A", "end": 2291, "referenceAllele": "G", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452136.1:c.1408G>A" ], "proteinEffect": { "hgvs": "XP_024307904.1:p.Gly470Arg", "hgvsWellDefined": "XP_024307904.1:p.Gly470Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS585638" }, { "coordinates": [ { "allele": "A", "end": 2291, "referenceAllele": "G", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452137.1:c.1408G>A" ], "proteinEffect": { "hgvs": "XP_024307905.1:p.Gly470Arg", "hgvsWellDefined": "XP_024307905.1:p.Gly470Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS585639" }, { "coordinates": [ { "allele": "A", "end": 2335, "referenceAllele": "G", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452138.1:c.1042G>A" ], "proteinEffect": { "hgvs": "XP_024307906.1:p.Gly348Arg", "hgvsWellDefined": "XP_024307906.1:p.Gly348Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS585640" }, { "coordinates": [ { "allele": "A", "end": 2329, "referenceAllele": "G", "start": 2328 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452139.1:c.1042G>A" ], "proteinEffect": { "hgvs": "XP_024307907.1:p.Gly348Arg", "hgvsWellDefined": "XP_024307907.1:p.Gly348Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS585641" }, { "coordinates": [ { "allele": "A", "end": 2232, "referenceAllele": "G", "start": 2231 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452140.1:c.1042G>A" ], "proteinEffect": { "hgvs": "XP_024307908.1:p.Gly348Arg", "hgvsWellDefined": "XP_024307908.1:p.Gly348Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS585642" }, { "coordinates": [ { "allele": "A", "end": 1728, "referenceAllele": "G", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754915.1:n.1728G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600857" }, { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "G", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754916.2:n.1507G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600858" }, { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "G", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754917.2:n.1507G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600859" }, { "coordinates": [ { "allele": "A", "end": 2328, "referenceAllele": "G", "start": 2327 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_002958634.1:n.2328G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604759" }, { "@id": "http://reg.genome.network/allele/PA2579801687", "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "G", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.3:c.1357G>A" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Gly453Arg", "hgvsWellDefined": "NP_000062.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674686", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.1357G>A" }, "RefSeq": { "hgvs": "NM_000071.3:c.1357G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Gly453Arg" }, "RefSeq": { "hgvs": "NP_000062.1:p.Gly453Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2826133785", "coordinates": [ { "allele": "A", "end": 1594, "referenceAllele": "G", "start": 1593 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.3:c.1357G>A" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Gly453Arg", "hgvsWellDefined": "NP_001171480.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS678912" }, { "@id": "http://reg.genome.network/allele/PA2826133107", "coordinates": [ { "allele": "A", "end": 1594, "referenceAllele": "G", "start": 1593 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.3:c.1357G>A" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Gly453Arg", "hgvsWellDefined": "NP_001171479.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713548" }, { "@id": "http://reg.genome.network/allele/PA2827043253", "coordinates": [ { "allele": "A", "end": 1615, "referenceAllele": "G", "start": 1614 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.2:c.1357G>A" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Gly453Arg", "hgvsWellDefined": "NP_001307227.1:p.Gly453Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS717765" } ], "type": "nucleotide" }