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_001171479.1:p.Gln243Pro
CA410600446
NM_001178008.3:c.728A>C
CA2579810890
NM_001178008.3:c.728_729delinsCA
CA2579810892
NM_001178008.3:c.728_729delinsCT