Canonical Allele Identifier: PA3088325513
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Thr191Arg
CA410601077
NM_001178008.3:c.572C>G
CA2579804333
NM_001178008.3:c.571_572delinsCG