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.Ser63Pro
CA410602268
NM_001178009.3:c.187T>C
CA2579804411
NM_001178009.3:c.187_189delinsCCG
CA2579813419
NM_001178009.3:c.187_189delinsCCT