Canonical Allele Identifier: PA2826133155
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Ser500Leu
CA321686665
NM_001178008.3:c.1499C>T
CA2579805303
NM_001178008.3:c.1498_1499delinsCT
CA2579813453
NM_001178008.3:c.1498_1500delinsCTT