Canonical Allele Identifier: PA2827070374
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Pro185Leu
CA321091497
NM_001321072.1:c.554C>T
CA2579805450
NM_001321072.1:c.554_555delinsTA