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.His513Lys
CA2579809097
NM_001178009.3:c.1537_1539delinsAAA
CA2579809099
NM_001178009.3:c.1537_1539delinsAAG