Canonical Allele Identifier: PA2579796774
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Tyr223Pro
CA2579803525
NM_000071.3:c.667_668delinsCC
CA2579803527
NM_000071.3:c.667_669delinsCCG