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) Transcript change
XP_011528085.1:p.Thr130Ser
XM_011529783.2:c.388A>T

XM_011529783.2:c.388_390delinsTCA

XM_011529783.2:c.388_390delinsTCG

XM_011529783.2:c.388_390delinsTCT

XM_011529783.2:c.389C>G

XM_011529783.2:c.389_390delinsGT