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.His17Pro
CA410602546
NM_001178009.3:c.50A>C
CA2579808854
NM_001178009.3:c.50_51delinsCT
CA2579808856
NM_001178009.3:c.50_51delinsCA
CA2579808857
NM_001178009.3:c.50_51delinsCG