Canonical Allele Identifier: PA2827043025
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Asp133Asn
CA322517
NM_001320298.2:c.397G>A
CA2579811550
NM_001320298.2:c.397_399delinsAAT