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.Thr195Leu
CA2579804065
NM_001321072.1:c.583_585delinsCTT
CA2579804067
NM_001321072.1:c.583_585delinsTTG
CA2579804068
NM_001321072.1:c.583_585delinsCTG