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
ENSP00000381225.1:p.Leu124Pro
CA410601845
ENST00000398158.5:c.371T>C
CA2579807919
ENST00000398158.5:c.371_372delinsCA
CA2579807921
ENST00000398158.5:c.371_372delinsCC