Canonical Allele Identifier: PA2579795538
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His17Asp
CA410602548
NM_000071.3:c.49C>G
CA2579808869
NM_000071.3:c.49_51delinsGAT