Canonical Allele Identifier: PA2579795384
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala158Val
CA410601473
NM_000071.3:c.473C>T
CA2579813165
NM_000071.3:c.473_474delinsTC