Canonical Allele Identifier: PA2579798047
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu283Gly
CA410600152
NM_000071.3:c.848A>G
CA2579809995
NM_000071.3:c.848_849delinsGG