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.Asn189Leu
CA2579811791
NM_001321072.1:c.565_567delinsTTA
CA2579811792
NM_001321072.1:c.565_567delinsCTG
CA2579811793
NM_001321072.1:c.565_567delinsTTG
CA2579811794
NM_001321072.1:c.565_566delinsCT
CA2579811795
NM_001321072.1:c.565_567delinsCTT