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.Arg491Ser
CA410395897
NM_001320298.2:c.1471C>A
CA2579811890
NM_001320298.2:c.1471_1473delinsAGT
CA2579811891
NM_001320298.2:c.1471_1473delinsTCT
CA2579811892
NM_001320298.2:c.1471_1472delinsTC