Canonical Allele Identifier: PA2827043106
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 132
ClinVar RCV Id: RCV000000155 RCV000195441 RCV000576767 RCV000589097 RCV002227962 RCV004018523 RCV003914787
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Thr191Met
CA113904
NM_001320298.2:c.572C>T