Canonical Allele Identifier: PA2579798228
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu292Val
CA321091423
NM_000071.3:c.875A>T
CA2579810562
NM_000071.3:c.875_876delinsTT