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
ENSP00000352643.3:p.Thr493Leu
CA2579803752
ENST00000359624.7:c.1477_1478delinsCT
CA2579803753
ENST00000359624.7:c.1477_1479delinsTTA
CA2579803755
ENST00000359624.7:c.1477_1479delinsCTT
CA2579803756
ENST00000359624.7:c.1477_1478delinsTT