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.Leu333Pro
CA410397054
NM_001321072.1:c.998T>C
CA2579807228
NM_001321072.1:c.998_999delinsCT