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
XP_011528077.1:p.Phe129Leu
CA410601916
XM_011529775.1:c.387C>G
CA410601917
XM_011529775.1:c.387C>A
CA410601922
XM_011529775.1:c.385T>C
CA2579806244
XM_011529775.1:c.385_387delinsCTG
CA2579806247
XM_011529775.1:c.385_387delinsCTT