Canonical Allele Identifier: PA2579794624
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg121Val
CA2579812203
NM_000071.3:c.361_363delinsGTT
CA2579812204
NM_000071.3:c.361_363delinsGTG