Canonical Allele Identifier: PA2827070384
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 471368
ClinVar RCV Id: RCV000558244 RCV002530068 RCV002377130
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Thr191Met
CA321091405
NM_001321072.1:c.572C>T