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.Leu230Pro
CA410600597
NM_001178009.3:c.689T>C
CA2579807693
NM_001178009.3:c.689_690delinsCC