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.Ser174Val
CA2579804736
NM_001178009.3:c.520_522delinsGTT
CA2579804737
NM_001178009.3:c.520_522delinsGTG
CA2579804738
NM_001178009.3:c.520_521delinsGT