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
ENSP00000381231.4:p.Ala48Leu
CA2579812513
ENST00000398165.8:c.142_144delinsTTG
CA2579812515
ENST00000398165.8:c.142_143delinsCT