Canonical Allele Identifier: PA2579796083
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr191Arg
CA410601077
NM_000071.3:c.572C>G
CA2579804333
NM_000071.3:c.571_572delinsCG