This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000388235.1:p.Met173Thr
CA410601311
ENST00000441030.5:c.518T>C
CA2579805777
ENST00000441030.5:c.518_519delinsCT