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_001171479.1:p.Ala157Pro
CA410601489
NM_001178008.3:c.469G>C
CA2579813181
NM_001178008.3:c.469_471delinsCCC
CA2579813934
NM_001178008.3:c.469_471delinsCCA