Canonical Allele Identifier: PA2579792446
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu514Leu
CA2579809741
NM_000071.3:c.1540_1541delinsCT
CA2579809742
NM_000071.3:c.1540_1541delinsTT