Canonical Allele Identifier: PA2579798061
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly284Val
CA410600143
NM_000071.3:c.851G>T
CA2579809420
NM_000071.3:c.851_852delinsTT