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
ENSP00000381225.1:p.Gln517Ser
CA2579810317
ENST00000398158.5:c.1549_1551delinsTCT
CA2579810318
ENST00000398158.5:c.1549_1551delinsAGT
CA2579810320
ENST00000398158.5:c.1549_1550delinsTC