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.Val178Leu
CA410601211
NM_001320298.2:c.532G>T
CA410601213
NM_001320298.2:c.532G>C
CA2579803301
NM_001320298.2:c.532_534delinsCTT