Canonical Allele Identifier: PA2579800901
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu416Lys
CA410397390
NM_000071.3:c.1246G>A
CA2579809913
NM_000071.3:c.1246_1248delinsAAA