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.Thr130Leu
CA2579804289
NM_001321072.1:c.388_390delinsCTG
CA2579804291
NM_001321072.1:c.388_390delinsCTT
CA2579804295
NM_001321072.1:c.388_390delinsTTG
CA2579813404
NM_001321072.1:c.388_390delinsTTA