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.Val512del
CA2579802833
ENST00000359624.7:c.1534_1535delinsTA
CA2579802848
ENST00000359624.7:c.1531_1532delinsTA