Canonical Allele Identifier: PA2579798148
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala288Leu
CA2579812916
NM_000071.3:c.862_864delinsCTG
CA2579812917
NM_000071.3:c.862_864delinsTTG