Canonical Allele Identifier: PA2579798155
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala288Glu
CA410600124
NM_000071.3:c.863C>A
CA2579812919
NM_000071.3:c.863_864delinsAG