Canonical Allele Identifier: PA2579798402
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr300Val
CA2579804054
NM_000071.3:c.898_900delinsGTG
CA2579804055
NM_000071.3:c.898_900delinsGTT