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.Ser175Leu
CA2579804718
NM_001178009.3:c.523_525delinsCTG
CA2579804719
NM_001178009.3:c.524_525delinsTA
CA2579804720
NM_001178009.3:c.523_525delinsCTT
CA2579804721
NM_001178009.3:c.524_525delinsTG