Canonical Allele Identifier: PA2579794626
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg121Asp
CA2579812226
NM_000071.3:c.361_362delinsGA
CA2579812228
NM_000071.3:c.361_363delinsGAT