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.Thr388Leu
CA2579803752
NM_001321072.1:c.1162_1163delinsCT
CA2579803753
NM_001321072.1:c.1162_1164delinsTTA
CA2579803755
NM_001321072.1:c.1162_1164delinsCTT
CA2579803756
NM_001321072.1:c.1162_1163delinsTT