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.Leu182Pro
CA410600127
NM_001321072.1:c.545T>C
CA2579807602
NM_001321072.1:c.545_546delinsCT
CA2579807603
NM_001321072.1:c.545_546delinsCA