Canonical Allele Identifier: PA2579798080
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser285Ala
CA410600142
NM_000071.3:c.853T>G
CA2579805067
NM_000071.3:c.853_855delinsGCA