Canonical Allele Identifier: PA2579792097
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg498Thr
CA410395799
NM_000071.3:c.1493G>C
CA2579811867
NM_000071.3:c.1493_1494delinsCT