Canonical Allele Identifier: PA2579796973
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Tyr233Phe
CA410600565
NM_000071.3:c.698A>T
CA2579803501
NM_000071.3:c.698_699delinsTT