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_001171479.1:p.Val178Arg
CA2579803306
NM_001178008.3:c.532_533delinsCG
CA2579803307
NM_001178008.3:c.532_533delinsAG
CA2579803309
NM_001178008.3:c.532_534delinsCGT