Canonical Allele Identifier: PA2499248496
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Pro290Leu
CA321091497
NM_001320298.2:c.869C>T
CA2579805450
NM_001320298.2:c.869_870delinsTA