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_001171480.1:p.Leu539Pro
CA2579806944
NM_001178009.3:c.1615_1616delinsCC
CA2579806945
NM_001178009.3:c.1615_1617delinsCCT
CA2579813567
NM_001178009.3:c.1615_1617delinsCCA