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
ENSP00000352643.3:p.Gln517Val
CA2579810311
ENST00000359624.7:c.1549_1550delinsGT
CA2579810312
ENST00000359624.7:c.1549_1551delinsGTT