Canonical Allele Identifier: PA096735
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 132
ClinVar RCV Id: RCV000000155 RCV000195441 RCV000576767 RCV000589097 RCV002227962 RCV004018523 RCV003914787
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr191Met
CA113904
NM_000071.3:c.572C>T