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.Ser123Thr
CA410601853
ENST00000441030.5:c.368G>C
CA2579804781
ENST00000441030.5:c.368_369delinsCG
CA2579813487
ENST00000441030.5:c.368_369delinsCT