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_001308001.1:p.Asp283Val
CA410397821
NM_001321072.1:c.848A>T
CA2579811749
NM_001321072.1:c.848_849delinsTT
CA2579811750
NM_001321072.1:c.848_849delinsTA
CA2579811751
NM_001321072.1:c.848_849delinsTG