Canonical Allele Identifier: PA2579797168
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln242Lys
CA410600467
NM_000071.3:c.724C>A
CA2579813820
NM_000071.3:c.724_726delinsAAA