Canonical Allele Identifier: PA2826133236
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Ser23Leu
CA321104075
NM_001178009.3:c.68C>T
CA2579804585
NM_001178009.3:c.67_69delinsCTT