Canonical Allele Identifier: PA2827043066
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Ala158Val
CA410601473
NM_001320298.2:c.473C>T
CA2579813165
NM_001320298.2:c.473_474delinsTC