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
XP_011528075.1:p.Asp251Arg
CA2579811540
XM_011529773.1:c.751_753delinsCGT
CA2579811541
XM_011529773.1:c.751_753delinsAGG
CA2579811542
XM_011529773.1:c.751_753delinsCGG