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_001307227.1:p.Glu451Leu
CA2579809794
NM_001320298.2:c.1351_1352delinsCT
CA2579809795
NM_001320298.2:c.1351_1352delinsTT
CA2579809798
NM_001320298.2:c.1351_1353delinsCTT
CA2579813773
NM_001320298.2:c.1351_1353delinsTTA