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
ENSP00000381231.3:p.Leu230Gln
CA410600601
ENST00000398165.7:c.689T>A
CA2579813609
ENST00000398165.7:c.689_690delinsAA