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_001308001.1:p.Ile330Val
CA410397116
NM_001321072.1:c.988A>G
CA2579808098
NM_001321072.1:c.988_990delinsGTA
CA2579808099
NM_001321072.1:c.988_990delinsGTT
CA2579808100
NM_001321072.1:c.988_990delinsGTG