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.His218Val
CA2579808792
ENST00000359624.7:c.652_654delinsGTT
CA2579808793
ENST00000359624.7:c.652_654delinsGTG
CA2579808794
ENST00000359624.7:c.652_654delinsGTA
CA2579808795
ENST00000359624.7:c.652_653delinsGT