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.Ile490Leu
CA410395910
NM_001320298.2:c.1468A>C
CA2579807972
NM_001320298.2:c.1468_1470delinsCTT
CA2579807973
NM_001320298.2:c.1468_1470delinsCTA
CA2579807974
NM_001320298.2:c.1468_1470delinsCTG
CA2579807975
NM_001320298.2:c.1468_1470delinsTTG