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.Gln7Pro
CA410602608
NM_001178008.3:c.20A>C
CA2579810859
NM_001178008.3:c.20_21delinsCT
CA2579810861
NM_001178008.3:c.20_21delinsCC