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.Gln295Pro
CA410600081
NM_001320298.2:c.884A>C
CA2579810759
NM_001320298.2:c.884_885delinsCC
CA2579810760
NM_001320298.2:c.884_885delinsCT