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.Arg16Ser
CA410601865
NM_001321072.1:c.46C>A
CA2579812211
NM_001321072.1:c.46_48delinsAGT
CA2579812213
NM_001321072.1:c.46_48delinsTCT
CA2579813905
NM_001321072.1:c.46_48delinsTCG