Canonical Allele Identifier: PA2579794462
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn113Ile
CA410601910
NM_000071.3:c.338A>T
CA2579812338
NM_000071.3:c.338_339delinsTT