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_001171480.1:p.Lys75Leu
CA2579806063
NM_001178009.3:c.223_224delinsTT
CA2579806064
NM_001178009.3:c.223_225delinsTTG
CA2579806065
NM_001178009.3:c.223_225delinsCTG
CA2579806066
NM_001178009.3:c.223_225delinsCTT