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.Asp221Val
CA410600743
NM_001178009.3:c.662A>T
CA2579811545
NM_001178009.3:c.662_663delinsTG
CA2579811546
NM_001178009.3:c.662_663delinsTT