Canonical Allele Identifier: PA2579801041
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro422Gln
CA410397326
NM_000071.3:c.1265C>A
CA2579805184
NM_000071.3:c.1265_1266delinsAA