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.Asp450Val
CA410396900
NM_001178009.3:c.1349A>T
CA2579811675
NM_001178009.3:c.1349_1350delinsTC
CA2579811676
NM_001178009.3:c.1349_1350delinsTG
CA2579811677
NM_001178009.3:c.1349_1350delinsTA