Canonical Allele Identifier: PA2579792083
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly497Cys
CA410395818
NM_000071.3:c.1489G>T
CA2579808960
NM_000071.3:c.1489_1491delinsTGT