Canonical Allele Identifier: PA2741863177
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Leu230Gln
CA410600601
NM_001320298.2:c.689T>A
CA2579813609
NM_001320298.2:c.689_690delinsAA