Canonical Allele Identifier: PA2579797204
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Cys244Val
CA2579810956
NM_000071.3:c.730_731delinsGT
CA2579811474
NM_000071.3:c.730_732delinsGTG