Canonical Allele Identifier: PA2579796657
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His218Ala
CA2579808813
NM_000071.3:c.652_654delinsGCG
CA2579808814
NM_000071.3:c.652_654delinsGCT