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.Ser180Leu
CA2579805062
NM_001321072.1:c.538_540delinsCTG
CA2579805063
NM_001321072.1:c.539_540delinsTA