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.Ile330Asn
CA410397110
NM_001321072.1:c.989T>A
CA2579808120
NM_001321072.1:c.989_990delinsAT