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.Leu287Pro
CA410600127
ENST00000398158.5:c.860T>C
CA2579807602
ENST00000398158.5:c.860_861delinsCT
CA2579807603
ENST00000398158.5:c.860_861delinsCA