Canonical Allele Identifier: PA2827043031
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Leu136Pro
CA321097579
NM_001320298.2:c.407T>C
CA2579813619
NM_001320298.2:c.407_408delinsCC