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.Glu40Leu
CA2579809926
ENST00000398165.8:c.118_120delinsTTA
CA2579809928
ENST00000398165.8:c.118_119delinsCT
CA2579809929
ENST00000398165.8:c.118_119delinsTT
CA2579813758
ENST00000398165.8:c.118_120delinsCTT