Canonical Allele Identifier: PA2579793643
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro74Cys
CA2579804811
NM_000071.3:c.220_222delinsTGC
CA2579804814
NM_000071.3:c.220_222delinsTGT