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.Gln242Leu
CA410600458
NM_001320298.2:c.725A>T
CA2579810913
NM_001320298.2:c.725_726delinsTT
CA2579810914
NM_001320298.2:c.724_725delinsTT