Canonical Allele Identifier: PA2579792200
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg51Leu
CA2579811862
NM_000071.3:c.151_152delinsTT
CA2579812435
NM_000071.3:c.151_152delinsCT