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.Leu182Asn
CA2579807607
NM_001321072.1:c.544_546delinsAAT
CA2579813626
NM_001321072.1:c.544_545delinsAA