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_011528076.1:p.Tyr250Leu
CA2579803506
XM_011529774.2:c.749_750delinsTG
CA2579803507
XM_011529774.2:c.748_750delinsCTG
CA2579803508
XM_011529774.2:c.748_750delinsCTT
CA2579803509
XM_011529774.2:c.749_750delinsTA