Canonical Allele Identifier: PA2579801211
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr430His
CA2579803824
NM_000071.3:c.1288_1290delinsCAT
CA2579803825
NM_000071.3:c.1288_1289delinsCA