Canonical Allele Identifier: PA2579798379
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr299Val
CA2579804079
NM_000071.3:c.895_897delinsGTT
CA2579804080
NM_000071.3:c.895_897delinsGTG