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
NP_001307227.1:p.Leu438Arg
CA410397052
NM_001320298.2:c.1313T>G
CA2579807240
NM_001320298.2:c.1312_1314delinsAGG
CA2579807241
NM_001320298.2:c.1313_1314delinsGT