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_001307227.1:p.Asp494Val
CA410395857
NM_001320298.2:c.1481A>T
CA2579811186
NM_001320298.2:c.1481_1482delinsTG
CA2579811187
NM_001320298.2:c.1481_1482delinsTT