Canonical Allele Identifier: PA2579798340
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu297Phe
CA2579810549
NM_000071.3:c.889_891delinsTTC
CA2579810552
NM_000071.3:c.889_891delinsTTT