Canonical Allele Identifier: PA2579798081
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser285Val
CA2579805057
NM_000071.3:c.853_855delinsGTG
CA2579805058
NM_000071.3:c.853_855delinsGTT