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
ENSP00000381225.1:p.His17Pro
CA410602546
ENST00000398158.5:c.50A>C
CA2579808854
ENST00000398158.5:c.50_51delinsCT
CA2579808856
ENST00000398158.5:c.50_51delinsCA
CA2579808857
ENST00000398158.5:c.50_51delinsCG