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.Phe6Val
CA410601931
NM_001321072.1:c.16T>G
CA2579806257
NM_001321072.1:c.16_18delinsGTG
CA2579806258
NM_001321072.1:c.16_18delinsGTT