Canonical Allele Identifier: PA2579800638
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu404Thr
CA2579809937
NM_000071.3:c.1210_1211delinsAC
CA2579809938
NM_000071.3:c.1210_1212delinsACT