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_011528085.1:p.[Thr131_Asp140delinsProLeuMetArgSerCysSerSerValMet;Lys142_Ala160delinsSerTrpThrCysTrpTrpLeuGlnTrpAlaArgAlaAlaProSerArgAlaLeu]
CA1022642304
XM_011529783.2:c.390del